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

Germline variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) gene have recently been described in about 50 patients with developmental delay and cardiac, facial, and digital anomalies (CAFDADD). We aimed to depict further the clinical and genetic spectrum associated with TRAF7 germline variants in two additional patients, broaden the mutational spectrum, and support the characteristic clinical variety to facilitate the diagnostics of the syndrome among physician involved in the evaluation of patients with developmental delay/congenital malformations.

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A case report of de novo 11q triplication, duplication, and segmental area of absence of heterozygosity in an infant with dysmorphic features, failure to thrive, and developmental delay.

Journal of Biochemical and Clinical Genetics ◽

10.24911/jbcgenetics/183-1547056081 ◽

2019 ◽

pp. 70-73

Author(s):

Mohammed Almannai ◽

Walaa Althunayyan ◽

Mohammed Elamin ◽

Paula Rendeiro ◽

Suha Tashkandi

Keyword(s):

Case Report ◽

Developmental Delay ◽

De Novo ◽

Failure To Thrive ◽

Dysmorphic Features

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Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature

Annales de Génétique ◽

10.1016/j.anngen.2004.11.005 ◽

2004 ◽

Author(s):

J ANDRIEUX ◽

L DEVISME ◽

A VALAT ◽

Y ROBERT ◽

C FRNKA ◽

...

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Corpus Callosum ◽

Ring Chromosome ◽

Chromosome 6 ◽

Cerebellar Hypoplasia ◽

Review Of The Literature ◽

Agenesis Of Corpus Callosum ◽

Ring Chromosome 6

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Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature

Cytogenetic and Genome Research ◽

10.1159/000445862 ◽

2016 ◽

Vol 148 (2-3) ◽

pp. 165-173 ◽

Cited By ~ 1

Author(s):

Aswini Sivasankaran ◽

Murthy K. Kanakavalli ◽

Deenadayalu Anuradha ◽

Chandra R. Samuel ◽

Lakshmi R. Kandukuri

Keyword(s):

Developmental Delay ◽

Heart Defects ◽

Ring Chromosome ◽

Chromosome 9 ◽

Deletion Syndrome ◽

Chromosomal Microarray ◽

Facial Dysmorphism ◽

Chromosomal Microarray Analysis ◽

Ring Chromosomes ◽

Normal Fish

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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