Interstitial deletion 2q31 leads to q33
- PMID: 6683075
- DOI: 10.1002/ajmg.1320150116
Interstitial deletion 2q31 leads to q33
Abstract
We present an 8-month-old female with severe retardation of growth and development, multiple congenital anomalies, and an interstitial deletion del(2)(q31 leads to q33) including results of cytogenetic and gene marker studies. The manifestations of this infant are compared with those of four other known patients with a partial del(2q).
Similar articles
-
Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37).Am J Med Genet. 1994 Feb 15;49(4):399-401. doi: 10.1002/ajmg.1320490410. Am J Med Genet. 1994. PMID: 8160733 Review.
-
Interstitial deletion of the short arm of chromosome 12. Report of a new patient and review of the literature.Ann Genet. 1990;33(1):43-5. Ann Genet. 1990. PMID: 2195980 Review.
-
Interstitial deletion of the long arm of chromosome 2: case report and review of literature.Ann Genet. 1981;24(4):245-7. Ann Genet. 1981. PMID: 7036843 Review. No abstract available.
-
Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q.Am J Med Genet. 1984 Sep;19(1):131-6. doi: 10.1002/ajmg.1320190114. Am J Med Genet. 1984. PMID: 6496565
-
Monosomy 21: a possible stepwise evolution of the karyotype.Am J Med Genet. 1979;4(3):279-86. doi: 10.1002/ajmg.1320040311. Am J Med Genet. 1979. PMID: 574719
Cited by
-
Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase.Hum Genet. 1988 May;79(1):92. doi: 10.1007/BF00291721. Hum Genet. 1988. PMID: 3366467
-
Mouse and hamster mutants as models for Waardenburg syndromes in humans.J Med Genet. 1990 Oct;27(10):618-26. doi: 10.1136/jmg.27.10.618. J Med Genet. 1990. PMID: 2246770 Free PMC article.
-
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.PLoS One. 2009 Aug 10;4(8):e6568. doi: 10.1371/journal.pone.0006568. PLoS One. 2009. PMID: 19668335 Free PMC article.
-
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.J Med Genet. 1989 Feb;26(2):127-30. doi: 10.1136/jmg.26.2.127. J Med Genet. 1989. PMID: 2918541 Free PMC article.
-
Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3).J Autism Dev Disord. 2003 Feb;33(1):105-8. doi: 10.1023/a:1022242807513. J Autism Dev Disord. 2003. PMID: 12708586
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources