Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation

1992 ◽  
Vol 89 (6) ◽  
Author(s):  
MarkJ. Pettenati ◽  
Nagesh Rao ◽  
Christine Johnson ◽  
Rosa Hayworth ◽  
Kerry Crandall ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cytogenetic Analysis ◽  
Mild Mental Retardation ◽  
Molecular Cytogenetic ◽  
Dysmorphic Features

scholarly journals Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

1995 ◽  
Vol 32 (10) ◽  
pp. 792-795 ◽  
Author(s):  
J J M Engelen ◽  
C E M d. Die-Smulders ◽  
J M J Sijstermans ◽  
L E C Meers ◽  
J C M Albrechts ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Partial Trisomy ◽  
Mild Mental Retardation ◽  
Dysmorphic Features

scholarly journals Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation

2015 ◽  
Vol 01 (01) ◽  
pp. 063-068
Author(s):  
Abir Gmidène ◽  
Najla Soyah ◽  
Hannachi Hanene ◽  
Soumaya Mougou ◽  
Hatem Elghezal ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cytogenetic Analysis ◽  
Molecular Cytogenetic

scholarly journals Atypical 22q11.2 Microduplication with “Typical” Signs and Overgrowth

2021 ◽  
pp. 1-5
Author(s):  
Matthias Fischer ◽  
Eva Klopocki
Keyword(s):  
Mental Retardation ◽  
Array Cgh ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Mild Mental Retardation ◽  
22Q11.2 Deletion ◽  
Dysmorphic Features ◽  
Clinically Significant ◽  
Reduced Penetrance ◽  
22Q11.2 Microduplication

The 22q11.2 microduplication syndrome shows variable phenotypes with reduced penetrance compared to the 22q11.2 deletion syndrome. We report a woman with overgrowth and macrocephaly, mild mental retardation, heart defect, kidney anomalies, and dysmorphic features. Array-CGH analysis revealed a 246-kb duplication at the 22q11.2 region. No additional clinically significant CNVs were found. The case resembles a previously published case also showing overgrowth and macrocephaly with an almost identical 22q11.2 duplication of 252 kb.

CYTOGENETIC ANALYSIS OF A BOY WITH THE XXXY SYNDROME: ORIGIN OF THE X-CHROMOSOMES

PEDIATRICS ◽  
1970 ◽  
Vol 45 (4) ◽  
pp. 677-686
Author(s):  
Robert M. Greenstein ◽  
David J. Harris ◽  
Luigi Luzzatti ◽  
Howard M. Cann
Keyword(s):  
Mental Retardation ◽  
Cytogenetic Analysis ◽  
Cultured Cells ◽  
Chromosome Constitution ◽  
Mild Mental Retardation ◽  
X Chromosomes ◽  
Blood Types ◽  
Single Sex ◽  
Buccal Smear ◽  
Sex Chromatin

A 3-year-old boy with radio-ulnar synostosis and mild mental retardation was found to have a 48/XXXY chromosome constitution in blood and skin cultures without evidence of mosaicism. Autoradiography of the cultured cells identified two late-labeling X-chromosomes. His buccal smear revealed double and single sex chromatin bodies. The patient and his family were studied for segregation of Xg blood types which are controlled by X-linked genes. This revealed the father to be Xg(a+), a positive hemizygote; the mother Xg (a-) was homozygous negative; and the proband was Xg(a-). These findings suggest that the three X-chromosomes of the proband came from his mother. It is proposed that nondisjunction occurred at both the first and second meiotic divisions of oogenesis, producing a triple-X (XXX) ovum which was then fertilized by the paternal Y-bearing sperm. This communication represents the first reported case of the XXXY syndrome in which informative cytogenetic evaluation has been obtained.

scholarly journals Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features

2011 ◽  
Vol 2011 ◽  
pp. 1-7
Author(s):  
Jie Hu ◽  
Suneeta Madan-Khetarpal ◽  
Alvaro H. Serrano Russi ◽  
Sally Kochmar ◽  
Stephanie J. DeWard ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cytogenetic Analysis ◽  
Chromosome Analysis ◽  
The Other ◽  
Comparative Genomic ◽  
Marker Chromosomes ◽  
Dysmorphic Features ◽  
Conventional Cytogenetic Analysis ◽  
Microarray Comparative Genomic Hybridization ◽  
Supernumerary Marker Chromosomes

We characterized three supernumerary marker chromosomes (SMCs) simultaneously present in a 2-year- and 10-month-old male patient with mental retardation and dysmorphic features. Peripheral blood chromosome analysis revealed two to three SMCs in 25/26 cells analyzed. The remaining one cell had one SMC. Microarray comparative genomic hybridization (aCGH) showed mosaicism for gains of 5q35.3, 15q11.2q13.3, and 18p11.21q11.1 regions. All three gains contain multiple OMIM genes. FISH studies indicated that one of the SMCs is a dicentric ring 15 with two copies of the 15q11.2q13.3 region including SNRPN/UBE3A and two copies of the 5q35.3 region. One of the der(18)s contains the 18 centromere and 18p11.2 regions, while the other der(18) has a signal for the 18 centromere only. The phenotype of the patient is compared with that of patients with tetrasomy 15q11.2q13.3, trisomy 5q35.3, and trisomy 18p11.2. Our study demonstrates that aCGH and FISH analyses are powerful tools, which complement the conventional cytogenetic analysis for the identification of SMCs.

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