Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay

Ring chromosomes have been described for all human chromosomes and are typically associated with physical and/or mental abnormalities resulting from a deletion of the terminal ends of both chromosome arms. This report describes the presence of a ring chromosome 9 in a 2-year-old male child associated with developmental delay. The proband manifested a severe phenotype comprising facial dysmorphism, congenital heart defects, and seizures. The child also exhibited multiple cell lines with mosaic patterns of double rings, a dicentric ring and loss of the ring associated with mitotic instability and dynamic tissue-specific mosaicism. His karyotype was 46,XY,r(9)(p22q34)[89]/46,XY,dic r(9; 9)(p22q34;p22q34)[6]/45, XY,-9[4]/47,XY,r(9),+r(9)[1]. However, the karyotypes of his parents and elder brother were normal. FISH using mBAND probe and subtelomeric probes specific for p and q arms for chromosome 9 showed no deletion in any of the regions. Chromosomal microarray analysis led to the identification of a heterozygous deletion of 15.7 Mb from 9p22.3 to 9p24.3. The probable role of the deleted genes in the manifestation of the phenotype of the proband is discussed.

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When Developmental Delay and Failure to Thrive Are Not Psychosocial

Hospital Pediatrics ◽

10.1542/hpeds.2014-0242 ◽

2015 ◽

Vol 6 (1) ◽

pp. 47-49

Author(s):

G. J. Prutsky ◽

E. B. Olivera ◽

K. Bittar

Keyword(s):

Developmental Delay ◽

Failure To Thrive

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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

Cytogenetic and Genome Research ◽

10.1159/000488692 ◽

2018 ◽

Vol 154 (4) ◽

pp. 201-208 ◽

Cited By ~ 1

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.

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Mild developmental delay due to ring chromosome 19 mosaicism

Developmental Medicine & Child Neurology ◽

10.1111/j.1469-8749.1999.tb00009.x ◽

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

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

Cytogenetic and Genome Research ◽

10.1159/000445273 ◽

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.

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