Deletion of chromosome region 18q21.1 ? 18q21.3 in a patient without clinical features of the 18q- phenotype (original) (raw)
18q Deletion Syndrome – A Case Report
Syed Azad
Journal of Medical Science And clinical Research, 2016
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Recurrent interstitial deletions of proximal 18q: A new syndrome involving expressive speech delay
L. Hardies, Jinqi Li
American Journal of Medical Genetics Part A, 2007
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Features of Two Cases with 18q Deletion Syndrome
Gül Mutlu
Journal of Clinical Research in Pediatric Endocrinology, 2014
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Molecular analysis of the 18q- syndrome--and correlation with phenotype
Lesly Rojas
American journal of human genetics, 1993
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A report of three patients with an interstitial deletion of chromosome 15q24
Wilfredo Martinez
American Journal of Medical Genetics Part A, 2005
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A unique presentation of 22q13 deletion syndrome
Dima El-Khechen
Clinical Dysmorphology, 2011
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Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature
RELU COCOS
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Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization
Marc Labenne
American Journal of Medical Genetics Part A, 2006
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Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases
Valeria Politi
European Journal of Medical Genetics, 2008
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18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals
Pentti Tienari
American Journal of Medical Genetics Part A, 2006
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19q13.32 microdeletion syndrome: Three new cases
angela castillo
European Journal of Medical Genetics, 2014
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Description of a child with a 6q14.1-q16.1 interstitial deletion: A very rare entity with airway manifestations
Catarina Duarte
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18q- syndrome and ectodermal dysplasia syndrome: Description of a child and his family
Palmino Sacco
American Journal of Medical Genetics, 2003
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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
Simone Schuffenhauer, Peter Scambler
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Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
Ann Oostra
American Journal of Medical Genetics Part A, 2008
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Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations
Tiina Alitalo
American Journal of Medical Genetics, 2003
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18Q22.3 → 18Q23 Deletion Syndrome and Cleft Palate
Bhavana J Dave
American Journal of Medical Genetics Part A, 2010
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8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism
Beata Lipska
Genetic counseling (Geneva, Switzerland), 2011
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Narrowing the deleted region associated with the 15q21 syndrome
Orsetta Zuffardi
European Journal of Medical Genetics, 2005
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Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review
Yuiko Hasegawa
Intractable & Rare Diseases Research
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Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25
Dmitriy Niyazov
American Journal of Medical Genetics Part A, 2011
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Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1–q25.32: Genotype–phenotype correlations of chromosome 3q25 deletion syndrome
C. Verellen-Dumoulin
European Journal of Medical Genetics, 2011
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Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype
David Weaver
American Journal of Medical Genetics, 1994
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Case Report: Interstitial Deletion 21q22.13-Q22.3 in a Male Patient with Developmental Delay, Holoprosencephaly, Dysmorphic Features, and Multiple Congenital Anomalies
Ibtessam R Hussein
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Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance
Melissa Carter
American Journal of Medical Genetics Part A, 2008
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