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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- Naritomi K, Izumikawa Y, Nagataki S, Fukushima Y, Wakui K, Niikawa N, Hirayama K: Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome? AJMG 43:839-843, 1992. [PubMed: 1642272]Patient 1.46,X,del(X)(p22.11p22.31)de novo.Both patients had microphtgalmia, cloudy corneae, mild linear skin lesions, and agenesis of corpus callosum.Aberration: Interstitial deletionMIM#: 304050,305600Chromosomal Aneuploidy: Xp-Index Terms: Goltz syndrome,Aicardi syndrome,Corneae ... cloudy,Agenesis of corpus callosumNegative band
- Telvi L, Ion A, Carel J C, Desguerre I, Piraud M, Boutin A M, Feingold J, Ponsot G, Fellous M, McElreavey K.: A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities. J. Med. Genet. 33:767-771, 1996. [PMC free article: PMC1050733] [PubMed: 8880579]46,Y,inv dup(X)(p22.11->p22.32).,46,X,inv dup(X)(p22.11->p22.32).At 17 years of age the boy could walk but not speak, and had dysmorphic features, profoundly mentally retarded.All three sibs have the Xp duplication, the proband and his two sisters.Aberration: DuplicationChromosomal Aneuploidy: Xp+Index Terms: Hypogonadotropic hypogonadismNegative band
- 0Xp2211 - Chromosomal Variation in Man0Xp2211 - Chromosomal Variation in Man
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