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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Fryns J P, Logghe N, van Eygen M, van den Berghe H: Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21). Hum. Genet. 48:127-130, 1979. [PubMed: 457127]Case BS in this report. Features were severe psychomotor retardation and hypotonia, no prenatal growth retardation but postnatal failure to thrive, and a number of congenital malformations, of which the craniofacial stigmata are the most prominant.Aberration: Interstitial deletionIndex Terms: Face ... anomalies,HypotoniaNo band
- Same entry as in 02p200 (Stenchever et al, 1977).
- Tar A, Ion A, Solyom J, Gyorvari B, Stephenson C, Barbaux S, Nunes M, Fellous M, McElreavey K.: Hypertelorism and hypopspadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13. AJMG 68:231-235, 1997. [PubMed: 9028465]46,XY,t(8;20)(q22.3-23;p13)de novoThe 11 year old also had cryptorchidism.A locus for the development of male external genitalia is hypothesised at distal 8q.Aberration: Simple translocationNo band
- PubMedLinks to PubMed
- 08q200 - Chromosomal Variation in Man08q200 - Chromosomal Variation in Man
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