A case of trisomy 3q21 leads to qter syndrome
- PMID: 422197
- DOI: 10.1007/BF00291914
A case of trisomy 3q21 leads to qter syndrome
Abstract
An infant with karyotype 46,XY,der(8),t(3;8)(q21;p23) is presented. The presence of trisomy 3q21 leads to qter syndrome is suspected on the basis of comparison of the clinical and laboratory findings of this patient with those of cases that have been reported as partial 3q trisomy. The common phenotypic features of this syndrome include growth failure and mental or developmental retardation, hypotonia, persistent lanugo, distorted head, congenital glaucoma, short and upturned nose, prominent maxilla, micrognathia, short, webbed neck, short limbs, retroflexed third and fourth toes, cutaneous syndactyly of the second, third and fourth toes, and elevated galactose-1-phosphate uridyl transferase activity in the red blood cells.
Similar articles
-
Partial trisomy of chromosome 3 (3q12 leads to qter) owing to 3q/18p translocation. A trisomy 3q syndrome.Am J Dis Child. 1979 Oct;133(10):1006-8. doi: 10.1001/archpedi.1979.02130100030005. Am J Dis Child. 1979. PMID: 495588
-
Trisomy 12p syndrome. Evaluation of a family with a t(12;21) (p12.1;p11) translocation with unbalanced offspring.Clin Genet. 1978 Apr;13(4):339-49. doi: 10.1111/j.1399-0004.1978.tb01190.x. Clin Genet. 1978. PMID: 148983
-
Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).J Med Genet. 1978 Apr;15(2):148-51. doi: 10.1136/jmg.15.2.148. J Med Genet. 1978. PMID: 641950 Free PMC article.
-
Trisomy 4q syndrome: presentation of a new case and review of the literature.Ann Genet. 2002 Apr-Jun;45(2):53-7. doi: 10.1016/s0003-3995(02)01117-6. Ann Genet. 2002. PMID: 12119211 Review.
-
A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.J Med Genet. 1997 Sep;34(9):772-6. doi: 10.1136/jmg.34.9.772. J Med Genet. 1997. PMID: 9321768 Free PMC article. Review.
Cited by
-
Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype.J Turk Ger Gynecol Assoc. 2010 Dec 1;11(4):228-32. doi: 10.5152/jtgga.2010.45. eCollection 2010. J Turk Ger Gynecol Assoc. 2010. PMID: 24591944 Free PMC article.
-
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).Am J Hum Genet. 2000 Jan;66(1):16-25. doi: 10.1086/302703. Am J Hum Genet. 2000. PMID: 10631133 Free PMC article.
-
Where is the gene for GALT?Hum Genet. 1980;54(1):129-30. doi: 10.1007/BF00279064. Hum Genet. 1980. PMID: 6248448 No abstract available.