Twin brothers with MIDAS syndrome and XX karyotype
- PMID: 12707958
- DOI: 10.1002/ajmg.a.10172
Twin brothers with MIDAS syndrome and XX karyotype
Abstract
Twin brothers with microphthalmia, facial dermal hypoplasia, sclerocornea, and supraventricular tachycardia, are reported. Their clinical features are compatible with MIDAS syndrome, a known X-linked and hemizygous male lethal condition. Their karyotypes showed an XX sex chromosome modality with a subtle Xp/Yp translocation proven by the presence of SRY gene. The pregnancy was complicated with fetal supraventricular tachycardia, which was treated with digoxin prenatally. Postnatally, both twins required treatment with adenosine, digoxin, and propanolol to remain in normal sinus rhythm. The possible involvement of the heart, only in the form of cardiomyopathy with arrhythmia is emphasized. Both twins had a selective X-inactivation of the derivative chromosome X with Xp/Yp translocation.
Copyright 2003 Wiley-Liss, Inc.
Similar articles
-
Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3).Am J Med Genet A. 2004 Jul 30;128A(3):325-30. doi: 10.1002/ajmg.a.30115. Am J Med Genet A. 2004. PMID: 15216557
-
Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development.Endocr J. 2013;60(12):1329-34. doi: 10.1507/endocrj.ej13-0334. Epub 2013 Oct 3. Endocr J. 2013. PMID: 24088663
-
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.Am J Med Genet. 1993 Oct 1;47(5):710-3. doi: 10.1002/ajmg.1320470525. Am J Med Genet. 1993. PMID: 8267001 Review.
-
Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.J Hum Genet. 2014 Oct;59(10):549-53. doi: 10.1038/jhg.2014.70. Epub 2014 Aug 7. J Hum Genet. 2014. PMID: 25102093
-
Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions.J Hum Genet. 1999;44(1):63-8. doi: 10.1007/s100380050110. J Hum Genet. 1999. PMID: 9929982 Review.
Cited by
-
Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.Mol Vis. 2013;19:311-8. Epub 2013 Feb 6. Mol Vis. 2013. PMID: 23401659 Free PMC article.
-
Chromosome abnormalities and the genetics of congenital corneal opacification.Mol Vis. 2011;17:1624-40. Epub 2011 Jun 17. Mol Vis. 2011. PMID: 21738392 Free PMC article. Review.
-
Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.Genes (Basel). 2021 Feb 11;12(2):263. doi: 10.3390/genes12020263. Genes (Basel). 2021. PMID: 33670341 Free PMC article. Review.
-
Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome.An Bras Dermatol. 2014 Jan-Feb;89(1):180-1. doi: 10.1590/abd1806-4841.20142240. An Bras Dermatol. 2014. PMID: 24626674 Free PMC article.
-
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.Orphanet J Rare Dis. 2014 Apr 15;9:53. doi: 10.1186/1750-1172-9-53. Orphanet J Rare Dis. 2014. PMID: 24735900 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
