scholarly journals Mild developmental delay due to ring chromosome 19 mosaicism

2007 ◽  
Vol 41 (1) ◽  
pp. 48-50
Author(s):  
I Vaz ◽  
S A Larkins ◽  
A Norman ◽  
S H Green
Keyword(s):  
Developmental Delay ◽  
Ring Chromosome ◽  
Chromosome 19 ◽  
Mild Developmental Delay

Mild developmental delay due to ring chromosome 19 mosaicism

1999 ◽  
Vol 41 (1) ◽  
pp. 48-50 ◽  
Author(s):  
I Vaz ◽  
S A Larkins ◽  
A Norman ◽  
S H Green
Keyword(s):  
Developmental Delay ◽  
Ring Chromosome ◽  
Chromosome 19 ◽  
Mild Developmental Delay

Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG

2004 ◽  
Vol 13 (4) ◽  
pp. 257-260 ◽  
Author(s):  
Arpad Matlary ◽  
Trine Prescott ◽  
Bj??rn Tvedt ◽  
Knut Lindberg ◽  
Andres Server ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Mild Developmental Delay ◽  
Aicardi Syndrome

scholarly journals PTCH1 duplication in a family with microcephaly and mild developmental delay

2008 ◽  
Vol 17 (2) ◽  
pp. 267-271 ◽  
Author(s):  
Katarzyna Derwińska ◽  
Marta Smyk ◽  
Mitchell Lance Cooper ◽  
Patricia Bader ◽  
Sau Wai Cheung ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Mild Developmental Delay

Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review

2018 ◽  
Vol 154 (4) ◽  
pp. 201-208 ◽  
Author(s):  
Shu Liu ◽  
Zhiqing Wang ◽  
Sisi Wei ◽  
Jinqun Liang ◽  
Nuan Chen ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Gray Matter ◽  
De Novo ◽  
Ring Chromosome ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 6 ◽  
Material Loss ◽  
Ring Chromosome 6

Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2.03 Mb) encompassing 2 and 15 candidate genes, respectively, which were detected using G-banding karyotyping, FISH, and chromosomal microarray analysis. We also analyzed the available information on the clinical features of the reported r(6) cases in order to provide more valuable information on genotype-phenotype correlations. To the best of our knowledge, this is the first report of gray matter heterotopia manifested in a patient with r(6) in China, and the deletions of 6p and 6q in our case are the smallest with the precise size of euchromatic material loss currently known.

Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review

2016 ◽  
Vol 148 (1) ◽  
pp. 6-13
Author(s):  
Kaihui Zhang ◽  
Fengling Song ◽  
Dongdong Zhang ◽  
Yong Liu ◽  
Haiyan Zhang ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Ring Chromosome ◽  
Deletion Syndrome ◽  
Facial Features ◽  
Whole Genome Microarray ◽  
Available Information ◽  
3P Deletion Syndrome

Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.

Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature

2013 ◽  
Vol 161 (6) ◽  
pp. 1447-1452 ◽  
Author(s):  
Else la Cour Sibbesen ◽  
Cathrine Jespersgaard ◽  
Daniela Alosi ◽  
Anne-Marie Bisgaard ◽  
Zeynep Tümer
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Ring Chromosome ◽  
Chromosome 9 ◽  
Review Of The Literature ◽  
Dysmorphic Features

Ring chromosome 14 mosaicism: An unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH

2009 ◽  
Vol 152A (1) ◽  
pp. 234-236 ◽  
Author(s):  
Anna Lisa Nucaro ◽  
Melania Falchi ◽  
Tiziana Pisano ◽  
Rossano Rossino ◽  
Francesca Boscarelli ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Unusual Case ◽  
Array Cgh ◽  
Ring Chromosome ◽  
Chromosome 14 ◽  
Genome Array

Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16

1988 ◽  
Vol 31 (1) ◽  
pp. 145-151 ◽  
Author(s):  
Bernard N. Chodirker ◽  
Manoranjan Ray ◽  
Phyllis J. McAlpine ◽  
Diane Riordan ◽  
Alice Vust ◽  
...  
Keyword(s):  
Short Stature ◽  
Developmental Delay ◽  
Ring Chromosome ◽  
Chromosome 16 ◽  
Facial Anomalies
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