NDLI: Microdeletion of the Down syndrome critical region at 21q22.

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Microdeletion of the Down syndrome critical region at 21q22.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Fujita, Hideki Torii, Chiharu Kosaki, Rika Yamaguchi, Shinya Kudoh, Jun Hayashi, Kumiko Takahashi, Takao Kosaki, Kenjiro
Description	Country affiliation: Japan Author Affiliation: Fujita H ( Division of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan.)
Abstract	The concept of the Down syndrome critical region implies the existence of several dosage-sensitive genes that result in an abnormal phenotype when duplicated. Among the genes in the presumed Down syndrome critical region, DYRK1A and SIM2 are thought to be particularly important because of their critical roles in the development of the central nervous system in model organisms. Considering that regulatory imbalances resulting in an altered amount of expression from crucial target genes tend to produce phenotypic effects in both monosomics and trisomics, haploinsufficiency for the Down syndrome critical region is expected to be associated with an abnormal phenotype. We report on a patient with severe microcephaly, a developmental delay, hypospadias, and corneal opacity who had a microdeletion spanning the Down syndrome critical region, including DYRK1A and SIM2. He presented with intrauterine growth retardation, hypospadias, corneal clouding, arched eyebrows, upslanting and narrow palpebral fissures, bifid uvula, prominent nasal root, short columella, prominent central incisors, pegged shaped teeth, retrognathia, hypoplastic nipples, and severe developmental delay. His G-banded karyotype was normal, but array comparative genomic hybridization showed a de novo deletion of 3.97 Mb at chromosome 21q22. The extreme degree of microcephaly in this patient may be ascribed to the haploinsufficiency of DYRK1A, since brain size is severely reduced in heterozygotes for the Dyrk1a null mutation in mice.
File Format	HTM / HTML
ISSN	15524825
Issue Number	4
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-04-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Deletion Chromosomes, Human, Pair 21 Genetics Down Syndrome Child Child, Preschool Comparative Genomic Hybridization Facies Female Humans In Situ Hybridization, Fluorescence Infant Infant, Newborn Male Pregnancy Reproducibility Of Results Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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