Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay

This study describes a molecular analysis of partial trisomy 14q and partial trisomy 12p in a 5-year-old male child presenting with dysmorphic features, congenital heart disease and global developmental delay. Chromosomal analysis of the patient with GTG bands revealed a 47,XY,+der(14)t(12;14)(p13;q22)mat karyotype; the mother's karyotype was 46,XX,t(12;14)(p13;q22). Further, oligonucleotide array- CGH studies revealed an amplification of 32.3 Mb in the 14q11.1q22.1 region, substantiating partial trisomy 14q and additionally displaying an amplification of ∼1 Mb in the 12p13.3pter region for partial trisomy 12p. This is the first study to demonstrate a novel association of partial trisomies of 14q and 12p due to a 3:1 segregation of a maternal balanced translocation involving chromosomes 12 and 14. Gene ontology studies indicated 5 potential candidate genes in the amplified regions for the observed congenital anomalies.

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

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.35901 ◽

2013 ◽

Vol 161 (6) ◽

pp. 1447-1452 ◽

Cited By ~ 5

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

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A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

Case Reports in Genetics ◽

10.1155/2014/658570 ◽

2014 ◽

Vol 2014 ◽

pp. 1-6 ◽

Cited By ~ 2

Author(s):

Adrian Mc Cormack ◽

Juliet Taylor ◽

Leah Te Weehi ◽

Donald R. Love ◽

Alice M. George

Keyword(s):

Homologous Recombination ◽

Developmental Delay ◽

Microarray Analysis ◽

Lower Incidence ◽

Clinical Phenotype ◽

Microarray Technology ◽

Dysmorphic Features ◽

Low Copy Repeats ◽

Nonallelic Homologous Recombination ◽

Chromosome Regions

Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses theCRHR1, MAPT,andKANSL1genes, as well as a microdeletion in chromosome 7q31.33 that is localised within theGRM8gene. To our knowledge this is one of only a few cases of 17q21.31 microduplication. The clinical phenotype of patients with this microduplication is milder than of those carrying the reciprocal microdeletions, and suggests that the lower incidence of the former compared to the latter may be due to underascertainment.

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