Case Reports
doi: 10.1002/ajmg.1320570416.
Gonadal dysgenesis in del(18p) syndrome
Affiliations
- PMID: 7573136
- DOI: 10.1002/ajmg.1320570416
Item in Clipboard
Case Reports
Gonadal dysgenesis in del(18p) syndrome
Am J Med Genet.
.
Abstract
We report on a girl with syndromal gonadal dysgenesis and a de novo del(18p). Genetic factors controlling gonadal development are located not only on the X chromosome, but also on autosomes. The present case suggests that one of these genes is situated on 18p. We conclude that patients with del(18p) syndrome should be evaluated for gonadal dysgenesis.
Similar articles
-
Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with 46,X,del(X)(pter-->q22:).Arch Gynecol Obstet. 2003 Jan;267(3):173-4. doi: 10.1007/s00404-001-0274-3. Arch Gynecol Obstet. 2003. PMID: 12552332
-
18p monosomy with midline defects and a de novo satellite identified by FISH.Ann Genet. 1997;40(3):158-63. Ann Genet. 1997. PMID: 9401105
-
[Molecular and cytogenetic study on 5 cases with gonadal dysgenesis: clinical applications of fluorescence in situ hybridization(FISH) and BAC-FISH].Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Oct;25(5):570-2. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008. PMID: 18841574 Chinese.
-
Balanced X;3 translocation associated with gonadal dysgenesis: clinical report and review.Am J Med Genet. 1991 Jul 1;40(1):121-3. doi: 10.1002/ajmg.1320400126. Am J Med Genet. 1991. PMID: 1887841 Review. No abstract available.
-
The Perrault syndrome: clinical report and review.Am J Med Genet. 1988 Nov;31(3):623-9. doi: 10.1002/ajmg.1320310317. Am J Med Genet. 1988. PMID: 3067578 Review.
Cited by
-
Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.Eur J Pediatr. 2012 Jul;171(7):1047-53. doi: 10.1007/s00431-012-1682-z. Eur J Pediatr. 2012. PMID: 22302461 Review.
-
A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.Am J Hum Genet. 1996 Jun;58(6):1185-91. Am J Hum Genet. 1996. PMID: 8651295 Free PMC article.
-
A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.J Med Genet. 1996 Sep;33(9):767-71. doi: 10.1136/jmg.33.9.767. J Med Genet. 1996. PMID: 8880579 Free PMC article.
-
Familial deletion 18p syndrome: case report.BMC Med Genet. 2006 Jul 14;7:60. doi: 10.1186/1471-2350-7-60. BMC Med Genet. 2006. PMID: 16842614 Free PMC article.
-
Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.J Med Genet. 1998 Sep;35(9):722-6. doi: 10.1136/jmg.35.9.722. J Med Genet. 1998. PMID: 9733029 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources