- Fagan K, Gill A: A new interstitial deletion of 4q (q21.1::q22.1). J. Med. Genet. 26:644-647, 1989. [PMC free article: PMC1015717] [PubMed: 2585461]46,XY,del(4)(pter -> q21.1::q22.1 -> qter)de novo.The newborn had multiple anomalies.Aberration: Interstitial deletionChromosomal Aneuploidy: 4q-Negative band
- Jacquemont M-L, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, Heron D, de Blois M-C, Prieur M, Vekemans M, Carter N P, Munnich A, Colleaux L, Philippe A.: Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J. Med. Genet. 43: 843-849, 2006. [PMC free article: PMC2563185] [PubMed: 16840569]Case 1: 46,XY,del(4)(q21.1q21.22)(4.8Mb)Twenty year old man with MCA.Case 5: 46,XY,del(4)(q21.23q24)(16.5Mb).Twelve year old boy with MCA..Aberration: Interstitial deletionChromosomal Aneuploidy: 4q-Index Terms: Autism spectrum disorders (ASD)
- Ness G O, Lybaek H, Houge G.: Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. AJMG DOI=10.1002/ajmg.10593; 113:125-136, 2002. [PubMed: 12407702]Case 3: 46,XX,del(4)(q21.1q21.3)Case, born in 1990, ascertained because of short stature, severe MR, epilepsy (infantile spasms), ASD, dysmorphic features (frontal bossing, synophrys, mongoloid slant, short philtrum, depressed angles of the mouth, small hands and feet).Aberration: Interstitial deletionChromosomal Aneuploidy: 4q-Index Terms: CGH
- Velinov M, Kupferman J, Gu H, Macera M J, Babu A, Jenkins E C, Kupchik G.: Polycystic kidneys and del(4)(q21.1q21.3): further delineation of a distinct phenotype. Europ. J. Med. Genet. 1:51-55, 2005. [PubMed: 15953406]46,XY,del(4)(q21.1q21.3).Patient was 3 years old and evaluated because of growth and developmental delay, hypotonia and dysmorphic features. He was found to have cysts in both kidneys.Aberration: Interstitial deletionMIM#: 173910Chromosomal Aneuploidy: 4q-Index Terms: Polycystic kidneys,PKD2
Publication Details
Copyright
Copyright © 2011-2013, Digamber
Borgaonkar.
Publisher
National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 04q211.