Dataset Information

Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.

ABSTRACT: Two cases of liveborn unrelated children with developmental delay and overlapping unbalanced translocations der(8)t(8;16)(p23.2;q23.3) and der (8)t(8;16)(p23.1;q23.1), leading to partial monosomy 8p and partial trisomy 16q, are reported in the present study. The first patient was a 10?year?old boy with mild developmental delay and minor congenital anomalies (borderline microcephaly, clinodactyly, hypertelorism, epicanthus, mild systolic murmur and kidney reflux). The second patient was a 3 year?old girl with developmental delay, gross motor milestone delay and dysmorphic features. Array?comparative genomic hybridization analysis revealed that partial chromosome 8p monosomy extended from 8p23.2 to 8pter (4.8 Mb) in Patient 1 and from 8p23.1 to 8pter (9.5 Mb) in Patient 2, and partial chromosome 16 trisomy extended from 16q23.3 to 16qter (5.6 Mb) in Patient 1 and from 16q23.1 to 16qter (11.7 Mb) in Patient 2. The mechanism of appearance of the rearrangement in association with the genes involved and the architecture of the region is discussed.

SUBMITTER: Papadopoulou Z

PROVIDER: S-EPMC5779959 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.

Papadopoulou Zoe Z Papoulidis Ioannis I Sifakis Stavros S Markopoulos Georgios G Vetro Annalisa A Vlaikou Angeliki-Maria AM Ziegler Monica M Liehr Thomas T Thomaidis Loretta L Zuffardi Orsetta O Syrrou Maria M George Kitsos K Manolakos Emmanouil E

Molecular medicine reports 20171010 6

Two cases of liveborn unrelated children with developmental delay and overlapping unbalanced translocations der(8)t(8;16)(p23.2;q23.3) and der (8)t(8;16)(p23.1;q23.1), leading to partial monosomy 8p and partial trisomy 16q, are reported in the present study. The first patient was a 10‑year‑old boy with mild developmental delay and minor congenital anomalies (borderline microcephaly, clinodactyly, hypertelorism, epicanthus, mild systolic murmur and kidney reflux). The second patient was a 3 year‑ ...[more]

PMID: 29039589

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Project description:A female patient with a partial trisomy 16q was described previously. Her clinical characteristics included obesity, severe anisomastia, moderate to severe mental retardation, dysmorphic facies, and contractions of the small joints. In this paper, we describe a more detailed analysis of the genetic anomaly in this patient. We were particularly interested in the involvement of the fat mass and obesity associated gene (FTO) in her duplication. Single nucleotide polymorphisms in FTO have recently been associated with obesity. We have precisely mapped the breakpoints of the duplication using high resolution oligonucleotide array comparative genome hybridization (CGH). We found that the duplication spans 11.45 Mb on 16q11.2 to 16q13 and it includes FTO. The increased copy number of FTO was confirmed with a qPCR on genomic DNA of the patient and healthy controls. We investigated the influence of the increased FTO copy number on FTO gene expression in immortalized lymphocytes from the using qPCR. We found no evidence of increased FTO expression in the patient. This observation could be explained by maternal imprinting. We found evidence supporting this hypothesis in a database of imprinted genes. In addition, our results generated new candidate genes for the mental retardation, dysmorphic facies, small joints contractions, small teeth, and anisomastia of the patient. We used a high density oligonucleotide microarray to delineate the borders of the duplication with high resolution. This analysis enabled us to confirm the inclusion of FTO in the duplication. This was confirmed with quantitative real-time PCR (qPCR) at the level of genomic DNA. To further investigate the role of FTO in the obese phenotype of the patient, we used qPCR to study the expression of FTO in immortalized lymphocytes of the patient. Remarkably, the increased FTO copy number in the patient’s genomic DNA did not give rise to an increased copy number of FTO mRNA molecules. We think this may be the result of maternal imprinting of the gene. The CGH results also allowed us to generate new hypotheses regarding the etiology of the other clinical problems of the patient. We propose candidate genes for her mental retardation, dysmorphic facies, joint contractures, small teeth, and anisomastia.

Dataset Information

Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.

Publications

Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.

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