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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- Doheny K F, McDermid H E, Harum K, Thomas G H, Raymond G V.: Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients. J. Med. genet. 34:640-644, 1997. [PMC free article: PMC1051025] [PubMed: 9279755]Proband 1 was presented at 22 months because of developmental delay.46,XX,der(22)t(1;22)(q44;q13.32)mat.ish der(22)t(1;22)(D22S39-;D22S39-)Proband 2 was 13 months with developmental delay.46,XX,del(22)(q13.32).ish del(22)(q13.3q13.3)(D22S39-) or 46,XX,add(22)(q13.32).ish del(22)(q13.3q13.3)(D22S39-)Aberration: RT,TDChromosomal Aneuploidy: 22q-No band
- Walter S, Sandig K, Hinkel G K, Mitulla B, Ounap K, Sims G, Sitska M, Utermann B, Viertel P, Kalscheuer V, Bartsch O.: Subtelomeric FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. AJMG DOI=10.1002/ajmg.a.30160; 128A:364-373, 2004. [PubMed: 15264281]Patient 3=46,XY.ish del(22)(q13.32qter)(CTA-448G12/D22S1043/CYP2D6+,CTA-475G12/D22S64+,CTA-899G1/D22S94+,CTA-299D3/D22S45-,CTA-115C9/D22S23/D22S453-,CTA-276D9/D22S326-,CTA-384D8/ECGF1/ARSA-,CTA-799F10/D22S163-,CTB-99K24-)de novo (2.3-3.7 Mb).Aberration: Interstitial deletionChromosomal Aneuploidy: 22q-
- 22q1332 - Chromosomal Variation in Man22q1332 - Chromosomal Variation in Man
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