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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- Croft M S, Turnpenny P D.: Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype. Clin. Dysmorphol. 17: 189-191, 2008. [PubMed: 18541966]46,XX,del(3)(q22.1q22.3)dnThe patient was 15 years old presenting with BPES, postnatal GR, microcephaly and type E brachydactyly..Aberration: Interstitial deletionChromosomal Aneuploidy: 3q-Index Terms: Epicanthus inversus, Ptosis, blepharophimosis
- Williamson R A, Donlan M A, Dolan C R, Thuline H C, Harrison M T, Hall J G: Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of a region 3q22.1 to q24 in different offspring. AJMG 9:105-111, 1981. [PubMed: 7258223]There are some similiarities of the affected patients with those with Schwartz-Jampel syndrome.46,XX or XY, dir ins(11;3)(q22.1;q221q24).&"46,XX or XY,dir ins(11;3)(11pter -> 11q221::3q221 -> 3q24::11q221 -> 11qter)."&"46,XX or XY,der(3)der(11)dir ins(11;3)(q22.1;q221q24)mat and pat."&"46,XX or XY,-3,+der(3)dir ins(11;3)(q22.1;q221q24)pat."&"46,XX or XY,-11,+der(11)dir ins(11;3)(q221;q221q24)pat."&Duplication of 3q from 3q221 -> 3q24 causes mild psychomotor retardation, clinodactyly of the 5th fingers, midface hypoplasia, questionable seizures and is associated with normal birth weight and length.Aberration: Direct insertions within a chromosomeIndex Terms: Clinodactyly,Midface hypoplasia,SeizuresPositive band
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