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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- Jewett T, Rao P N, Weaver R G, Stewart W, Thomas I T, Pettenati M J: Blepharophimosis syndrome (BPES) associated with del 3q22: gene assignment to the interface of band 3q22-q23. AJHG 51:A81, 1992.
Jewett T, Rao P N, Weaver R G, Stewart W, Thomas I T, Pettenati M J: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23. AJMG 47:1147-1150, 1993. [PubMed: 8291545]46,XY,del(3)(q21.3q23)de novo.The infant had BPES and developmental delay.A locus for eyelid development is thought to be present at the interface of bands 3q22.3 and 3q23.Aberration: Interstitial deletionMIM#: 110100Chromosomal Aneuploidy: 3q-Index Terms: Blepharophimosis,Ptosis,Epicanthus inversus,BlepharophimosisNegative band - Yue Y, Grossmann B, Ferguson-Smith M, Yang F, Haaf T.: Comparative cytogenetics of human chromosome 3q21.3 reveals a hot spot for ectopic recombination in hominoid evolution. Genomics 85:36-47, 2005. [PubMed: 15607420]Aberration: Marker chromosome
- 03q213 - Chromosomal Variation in Man03q213 - Chromosomal Variation in Man
- 03q000 - Chromosomal Variation in Man03q000 - Chromosomal Variation in Man
- 03q220 - Chromosomal Variation in Man03q220 - Chromosomal Variation in Man
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