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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- Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]Patient I.P. No. 12251 in this report.46,XY,t(7;11)(p152;p152).&"46,XY,t(7;11)(7pter -> 7p152::11p152 -> 11qter;11pter -> 11p152::7p152 -> 7qter)."Aberration: Reciprocal translocationPositive band
- Cartwright M J, Hassan T S, Frueh B R.: Microdeletion of chromosome 7p syndrome ocular manifestations. Ophthal. Plast. Reconst. Surg. 11:139-141, 1995. [PubMed: 7654619]46,XX,del(7)(p15.2p21.2)Bilateral congenital myogenic ptosis, blepharoptosis, epicanthic folds, long eyelashes, and antimongoloid slant were noted at birth and the patient was later referred to genetics clinic for evaluation.The child responded well to surgical procedure, fascia lata frontalis sling, at 4 years of age.Aberration: Interstitial deletionMIM#: 178300Chromosomal Aneuploidy: 7p-Index Terms: Ptosis congenital myogenic
- Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]46,XY,t(7;14)(p15.2;q24).Aberration: Reciprocal translocationPositive band
- 07p152 - Chromosomal Variation in Man07p152 - Chromosomal Variation in Man
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