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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- Davies A F, Mirza G, Sekhon G, Turnpenny P, Leroy F, Speleman F, Law C, van Regemorter N, Vamos E, Flinter F, Ragoussis J.: Delineation of two distinct 6p deletion syndromes. Hum. Genet. 104:64-72, 1999. [PubMed: 10071194]
Law C J, Fisher A M, Temple I K.: Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports. J. Med. Genet. 35:685-689, 1998. [PMC free article: PMC1051400] [PubMed: 9719381]46,XY,del(6)(p24.3)de novo.ish del(6)(p25p25)(36I2-).Patient was 32 years old. 6p deletion syndrome characteristics include facial appearance with hypertelorism, downward slanting palpebral fissures, tented mouth, ear anomalies, anterior chamber eye defects, deafness, among other anomalies.Aberration: Terminal deletionChromosomal Aneuploidy: 6p-Index Terms: Anterior chamber eye anomaly - Martinet D, filges I, Schmutz N B, Morris M A, Gaide A-C, Dahoun S, Bottani A, Addor M-C, Antonarakis S E, Beckmann J S, Bena F. : Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients. AJMG Part A: 146A: 2094-2102, 2008. [PubMed: 18629875]Patient 1=46,XX,del(60(p24.3->pter),8.1 Mb, dup(6)(p24.3p24),5.8 Mb.,Patient 2=46,XY,del(60(p25.1->pter),5.7 Mb.Patient 1 was 8 months old with normal growth parameters, bilateral corectopia, protruding tongue, severe devlopmental delay, profound bilateral neurosensory deafness, poor visual contact, and hypsarrhythmia.,Patient 2 was 5 years old with normal growth parameters with unilateral hip dysplasia, bilateral embryotoxon, and moderate MR.Aberration: Terminal deletionChromosomal Aneuploidy: 6p-
- Mascarello J T, Hubbard V: Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. AJMG 38:37-42, 1991. [PubMed: 2012130]46,XY,del(6)(p24.3).Aberration: Interstitial deletionChromosomal Aneuploidy: 6p-Index Terms: High resolution G-bandingPositive band
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