Janice Zunich - Academia.edu (original) (raw)

Papers by Janice Zunich

Research paper thumbnail of Genetics of Gynecologic Malignancies

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Clinical features of trisomy 12 mosaicism-Report and review

American Journal of Medical Genetics Part A

Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who ... more Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the limbs. She had age-appropriate development at 6 months of age, but displayed slightly more dysmorphic features than at birth. Chromosome analysis on peripheral blood revealed a normal female karyotype in 50 metaphases. A concurrent genomic microarray analysis showed trisomy 12 in about 25% of the specimen, which was also confirmed by fluorescence in situ hybridization analysis with the CEP12 probe. Our findings further delineate the clinical features in trisomy 12 mosaicism in liveborns and demonstrate the utility of genomic microarray analysis in identification of mosaic aneuploidies.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Trisomy 12 Mosaicism Detected by Genomic Microarray in a Newborn Child

Cancer Genetics, 2016

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Toxoplasmosis masquerading as a psychotropic side effect

The Journal of clinical psychiatry, 1978

When treating a patient with neuroleptics or tricyclic antidepressants, it is usually assumed tha... more When treating a patient with neuroleptics or tricyclic antidepressants, it is usually assumed that complaints of blurred vision can be ascribed to the anticholinergic side effects of these drugs. The authors present a patient treated with imipramine and trifluoperazine whose complaints of blurred vision led to the diagnosis of toxoplasma chorioretinitis.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Chime Syndrome (Zunich Syndrome)

Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes, 2008

... Julius CE, Keeran M (1971) Netherton's syndrome in a male. ... nlm.nih.gov/omim Schnur RE... more ... Julius CE, Keeran M (1971) Netherton's syndrome in a male. ... nlm.nih.gov/omim Schnur RE, Greenbaum BH, Hewmann WR, Christensen K, Buck AS, Reid CS (1997) Acute lymphoblastic leukemia in a child with the CHIME ... Sidbury R, Paller AS (2001) What syndrome is this? ...

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Congenital Migratory Ichthyosiform Dermatosis With Neurologic and Ophthalmologic Abnormalities

Archives of Dermatology, 1985

We encountered two patients with a congenital migratory ichthyosiform dermatosis, retinal colobom... more We encountered two patients with a congenital migratory ichthyosiform dermatosis, retinal colobomas, conductive hearing loss, seizures, mental retardation, and similar facial features. The results of electron microscopic studies performed on skin biopsy specimens from the patients differed significantly from those of previously reported cases of ichthyosiform dermatoses with associated neurologic and ophthalmologic abnormalities; they appear to represent a new neuroectodermal syndrome.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Autosomal recessive transmission of neuroectodermal syndrome

Archives of Dermatology, 1988

Bookmarks Related papers MentionsView impact

Research paper thumbnail of A child with deletion (14)(q24.3q32.13) and auditory neuropathy

American Journal of Medical Genetics Part A, 2008

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21)

American Journal of Medical Genetics, 2004

We report on a case of an interstitial duplication of 11q in a patient with developmental delay a... more We report on a case of an interstitial duplication of 11q in a patient with developmental delay and in his moderately delayed mother. Partial trisomy 11q is well documented in the literature with most cases involving the distal region of the long arm of chromosome 11. In almost all cases, this trisomy is associated with monosomy of the second chromosome involved in the parental translocation. The most common, partial 11q and 22q trisomy syndrome, is observed in offspring of t(11;22)(q23;q11.2) carriers from a 3:1 tertiary trisomic malsegregation. We found only two previous reports of pure partial trisomy 11q in the literature. Comparison of the clinical findings of our patient and another single published report of duplication in the same segment of chromosome 11 suggests that the duplication of this region manifests mild phenotypic abnormalities.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Additional case report of new neuroectodermal syndrome

American Journal of Medical Genetics, 1984

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature

American Journal of Medical Genetics, 1995

Bookmarks Related papers MentionsView impact

Research paper thumbnail of New syndrome of congenital ichthyosis with neurologic abnormalities

American Journal of Medical Genetics, 1983

... Dr. Janice Zunich 1,* ,; Celia I. Kaye 2 ,; Dr. Preus Editor ,; Dr. Fraser Editor. ... Anomal... more ... Dr. Janice Zunich 1,* ,; Celia I. Kaye 2 ,; Dr. Preus Editor ,; Dr. Fraser Editor. ... Anomalies, Center for Genetics, School of Basic Medical Sciences, University of Illinois at the Medical Center, Chicago, and Section of Genetics, Lutheran General Hospital, Park Ridge, Illinois. ...

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21)

American Journal of Medical Genetics, 2004

We report on a case of an interstitial duplication of 11q in a patient with developmental delay a... more We report on a case of an interstitial duplication of 11q in a patient with developmental delay and in his moderately delayed mother. Partial trisomy 11q is well documented in the literature with most cases involving the distal region of the long arm of chromosome 11. In almost all cases, this trisomy is associated with monosomy of the second chromosome involved in the parental translocation. The most common, partial 11q and 22q trisomy syndrome, is observed in offspring of t(11;22)(q23;q11.2) carriers from a 3:1 tertiary trisomic malsegregation. We found only two previous reports of pure partial trisomy 11q in the literature. Comparison of the clinical findings of our patient and another single published report of duplication in the same segment of chromosome 11 suggests that the duplication of this region manifests mild phenotypic abnormalities.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases

Journal of Medical Genetics, 1995

A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of ... more A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of four patients reported, it is presumed to be an autosomal recessive disorder because of recurrence in sibs. The main features include ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conductive hearing loss, seizures, and typical facial features. We report a fifth child with the condition, confirming the unique nature of the condition. Long term follow up information on this patient, as well as the previously described cases, provides information regarding the outcome for these patients, which includes general good health, severe mental retardation, seizures that worsen after puberty, conductive hearing loss, and chronic migratory ichthyosiform skin rash without scarring.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of A Novel Dominant Negative Mutation of OTX2 Associated with Combined Pituitary Hormone Deficiency

The Journal of Clinical Endocrinology & Metabolism, 2008

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Tissue-specific methylation differences in a fragile X premutation carrier

Clinical Genetics, 1999

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

The American Journal of Human Genetics, 2012

Bookmarks Related papers MentionsView impact

Research paper thumbnail of SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

The American Journal of Human Genetics, 2013

Copy-number variants (CNVs) represent a significant interpretative challenge, given that each CNV... more Copy-number variants (CNVs) represent a significant interpretative challenge, given that each CNV typically affects the dosage of multiple genes. Here we report on five individuals with coloboma, microcephaly, developmental delay, short stature, and craniofacial, cardiac, and renal defects who harbor overlapping microdeletions on 8q24.3. Fine mapping localized a commonly deleted 78 kb region that contains three genes: SCRIB, NRBP2, and PUF60. In vivo dissection of the CNV showed discrete contributions of the planar cell polarity effector SCRIB and the splicing factor PUF60 to the syndromic phenotype, and the combinatorial suppression of both genes exacerbated some, but not all, phenotypic components. Consistent with these findings, we identified an individual with microcephaly, short stature, intellectual disability, and heart defects with a de novo c.505C>T variant leading to a p.His169Tyr change in PUF60. Functional testing of this allele in vivo and in vitro showed that the mutation perturbs the relative dosage of two PUF60 isoforms and, subsequently, the splicing efficiency of downstream PUF60 targets. These data inform the functions of two genes not associated previously with human genetic disease and demonstrate how CNVs can exhibit complex genetic architecture, with the phenotype being the amalgam of both discrete dosage dysfunction of single transcripts and also of binary genetic interactions.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Human Mutation, 2010

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Genetics of Gynecologic Malignancies

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Clinical features of trisomy 12 mosaicism-Report and review

American Journal of Medical Genetics Part A

Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who ... more Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the limbs. She had age-appropriate development at 6 months of age, but displayed slightly more dysmorphic features than at birth. Chromosome analysis on peripheral blood revealed a normal female karyotype in 50 metaphases. A concurrent genomic microarray analysis showed trisomy 12 in about 25% of the specimen, which was also confirmed by fluorescence in situ hybridization analysis with the CEP12 probe. Our findings further delineate the clinical features in trisomy 12 mosaicism in liveborns and demonstrate the utility of genomic microarray analysis in identification of mosaic aneuploidies.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Trisomy 12 Mosaicism Detected by Genomic Microarray in a Newborn Child

Cancer Genetics, 2016

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Toxoplasmosis masquerading as a psychotropic side effect

The Journal of clinical psychiatry, 1978

When treating a patient with neuroleptics or tricyclic antidepressants, it is usually assumed tha... more When treating a patient with neuroleptics or tricyclic antidepressants, it is usually assumed that complaints of blurred vision can be ascribed to the anticholinergic side effects of these drugs. The authors present a patient treated with imipramine and trifluoperazine whose complaints of blurred vision led to the diagnosis of toxoplasma chorioretinitis.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Chime Syndrome (Zunich Syndrome)

Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes, 2008

... Julius CE, Keeran M (1971) Netherton's syndrome in a male. ... nlm.nih.gov/omim Schnur RE... more ... Julius CE, Keeran M (1971) Netherton's syndrome in a male. ... nlm.nih.gov/omim Schnur RE, Greenbaum BH, Hewmann WR, Christensen K, Buck AS, Reid CS (1997) Acute lymphoblastic leukemia in a child with the CHIME ... Sidbury R, Paller AS (2001) What syndrome is this? ...

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Congenital Migratory Ichthyosiform Dermatosis With Neurologic and Ophthalmologic Abnormalities

Archives of Dermatology, 1985

We encountered two patients with a congenital migratory ichthyosiform dermatosis, retinal colobom... more We encountered two patients with a congenital migratory ichthyosiform dermatosis, retinal colobomas, conductive hearing loss, seizures, mental retardation, and similar facial features. The results of electron microscopic studies performed on skin biopsy specimens from the patients differed significantly from those of previously reported cases of ichthyosiform dermatoses with associated neurologic and ophthalmologic abnormalities; they appear to represent a new neuroectodermal syndrome.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Autosomal recessive transmission of neuroectodermal syndrome

Archives of Dermatology, 1988

Bookmarks Related papers MentionsView impact

Research paper thumbnail of A child with deletion (14)(q24.3q32.13) and auditory neuropathy

American Journal of Medical Genetics Part A, 2008

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21)

American Journal of Medical Genetics, 2004

We report on a case of an interstitial duplication of 11q in a patient with developmental delay a... more We report on a case of an interstitial duplication of 11q in a patient with developmental delay and in his moderately delayed mother. Partial trisomy 11q is well documented in the literature with most cases involving the distal region of the long arm of chromosome 11. In almost all cases, this trisomy is associated with monosomy of the second chromosome involved in the parental translocation. The most common, partial 11q and 22q trisomy syndrome, is observed in offspring of t(11;22)(q23;q11.2) carriers from a 3:1 tertiary trisomic malsegregation. We found only two previous reports of pure partial trisomy 11q in the literature. Comparison of the clinical findings of our patient and another single published report of duplication in the same segment of chromosome 11 suggests that the duplication of this region manifests mild phenotypic abnormalities.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Additional case report of new neuroectodermal syndrome

American Journal of Medical Genetics, 1984

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature

American Journal of Medical Genetics, 1995

Bookmarks Related papers MentionsView impact

Research paper thumbnail of New syndrome of congenital ichthyosis with neurologic abnormalities

American Journal of Medical Genetics, 1983

... Dr. Janice Zunich 1,* ,; Celia I. Kaye 2 ,; Dr. Preus Editor ,; Dr. Fraser Editor. ... Anomal... more ... Dr. Janice Zunich 1,* ,; Celia I. Kaye 2 ,; Dr. Preus Editor ,; Dr. Fraser Editor. ... Anomalies, Center for Genetics, School of Basic Medical Sciences, University of Illinois at the Medical Center, Chicago, and Section of Genetics, Lutheran General Hospital, Park Ridge, Illinois. ...

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21)

American Journal of Medical Genetics, 2004

We report on a case of an interstitial duplication of 11q in a patient with developmental delay a... more We report on a case of an interstitial duplication of 11q in a patient with developmental delay and in his moderately delayed mother. Partial trisomy 11q is well documented in the literature with most cases involving the distal region of the long arm of chromosome 11. In almost all cases, this trisomy is associated with monosomy of the second chromosome involved in the parental translocation. The most common, partial 11q and 22q trisomy syndrome, is observed in offspring of t(11;22)(q23;q11.2) carriers from a 3:1 tertiary trisomic malsegregation. We found only two previous reports of pure partial trisomy 11q in the literature. Comparison of the clinical findings of our patient and another single published report of duplication in the same segment of chromosome 11 suggests that the duplication of this region manifests mild phenotypic abnormalities.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases

Journal of Medical Genetics, 1995

A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of ... more A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of four patients reported, it is presumed to be an autosomal recessive disorder because of recurrence in sibs. The main features include ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conductive hearing loss, seizures, and typical facial features. We report a fifth child with the condition, confirming the unique nature of the condition. Long term follow up information on this patient, as well as the previously described cases, provides information regarding the outcome for these patients, which includes general good health, severe mental retardation, seizures that worsen after puberty, conductive hearing loss, and chronic migratory ichthyosiform skin rash without scarring.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of A Novel Dominant Negative Mutation of OTX2 Associated with Combined Pituitary Hormone Deficiency

The Journal of Clinical Endocrinology & Metabolism, 2008

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Tissue-specific methylation differences in a fragile X premutation carrier

Clinical Genetics, 1999

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

The American Journal of Human Genetics, 2012

Bookmarks Related papers MentionsView impact

Research paper thumbnail of SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

The American Journal of Human Genetics, 2013

Copy-number variants (CNVs) represent a significant interpretative challenge, given that each CNV... more Copy-number variants (CNVs) represent a significant interpretative challenge, given that each CNV typically affects the dosage of multiple genes. Here we report on five individuals with coloboma, microcephaly, developmental delay, short stature, and craniofacial, cardiac, and renal defects who harbor overlapping microdeletions on 8q24.3. Fine mapping localized a commonly deleted 78 kb region that contains three genes: SCRIB, NRBP2, and PUF60. In vivo dissection of the CNV showed discrete contributions of the planar cell polarity effector SCRIB and the splicing factor PUF60 to the syndromic phenotype, and the combinatorial suppression of both genes exacerbated some, but not all, phenotypic components. Consistent with these findings, we identified an individual with microcephaly, short stature, intellectual disability, and heart defects with a de novo c.505C>T variant leading to a p.His169Tyr change in PUF60. Functional testing of this allele in vivo and in vitro showed that the mutation perturbs the relative dosage of two PUF60 isoforms and, subsequently, the splicing efficiency of downstream PUF60 targets. These data inform the functions of two genes not associated previously with human genetic disease and demonstrate how CNVs can exhibit complex genetic architecture, with the phenotype being the amalgam of both discrete dosage dysfunction of single transcripts and also of binary genetic interactions.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Human Mutation, 2010

Bookmarks Related papers MentionsView impact