Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

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Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2021.01.013 ◽

2021 ◽

Vol 60 (2) ◽

pp. 341-344

Author(s):

Chih-Ping Chen ◽

Schu-Rern Chern ◽

Peih-Shan Wu ◽

Shin-Wen Chen ◽

Fang-Tzu Wu ◽

...

Keyword(s):

Mental Retardation ◽

Developmental Delay ◽

Congenital Heart Defects ◽

Congenital Heart ◽

De Novo ◽

Heart Defects ◽

Molecular Cytogenetic ◽

Cytogenetic Characterization ◽

Chromosome 1Q41

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Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells.

Molecular and Cellular Biology ◽

10.1128/mcb.9.4.1799 ◽

1989 ◽

Vol 9 (4) ◽

pp. 1799-1803 ◽

Cited By ~ 145

Author(s):

A E Reeve ◽

S A Sih ◽

A M Raizis ◽

A P Feinberg

Keyword(s):

Mental Retardation ◽

Tumor Cells ◽

Germ Line ◽

Wilms Tumor ◽

Globin Gene ◽

Allelic Loss ◽

Chromosomal Band ◽

Chromosome 11 ◽

Gamma Globin ◽

Wagr Syndrome

Children with associated Wilms' tumor, aniridia, genitourinary malformations, and mental retardation (WAGR syndrome) frequently have a cytogenetically visible germ line deletion of chromosomal band 11p13. In accordance with the Knudson hypothesis of two-hit carcinogenesis, the absence of this chromosomal band suggests that loss of both alleles of a gene at 11p13 causes Wilms' tumor. Consistent with this model, chromosomes from sporadically occurring Wilms' tumor cells frequently show loss of allelic heterozygosity at polymorphic 11p15 loci, and therefore it has been assumed that allelic loss extends proximally to include 11p13. We report here that in samples from five sporadic Wilms' tumors, allelic loss occurred distal to the WAGR locus on 11p13. In cells from one tumor, mitotic recombination occurred distal to the gamma-globin gene on 11p15.5. Thus, allelic loss in sporadic Wilms' tumor cells may involve a second locus on 11p.

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