Alpha 2.0
Login Register
» Articles » PMID: 2308157

Two 46,XX,t(X;Y) Females with Linear Skin Defects and Congenital Microphthalmia: a New Syndrome at Xp22.3

Overview
Journal J Med Genet
Specialty Genetics
Date 1990 Jan 1
PMID 2308157
Citations 17
Authors
L I Al-Gazali
R F MUELLER
A Caine
A Antoniou
A McCartney
M Fitchett
N R Dennis
Affiliations
Soon will be listed here.
Abstract

We describe two females with de novo X;Y translocations, who presented at birth with irregular linear areas of erythematous skin hypoplasia involving the head and neck, along with eye findings that included microphthalmia, corneal opacities, and orbital cysts. The features in these children are similar to but distinct from those seen in females with Goltz syndrome and incontinentia pigmenti. Cytogenetic analysis has shown the X chromosome breakpoint in both females to be at Xp22.3. We suggest that this syndrome is the result of a deletion or disruption of DNA sequences in the region of Xp22.3.

Citing Articles

Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in -Related Disease.

Reis L, Basel D, Bitoun P, Walton D, Glaser T, Semina E Genes (Basel). 2025; 15(12.

PMID: 39766903 PMC: 11675438. DOI: 10.3390/genes15121636.

Research status of congenital microphthalmos with orbital cyst.

Li B Int Ophthalmol. 2024; 45(1):13.

PMID: 39688643 DOI: 10.1007/s10792-024-03387-0.

Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.

Indrieri A, Franco B Genes (Basel). 2021; 12(2).

PMID: 33670341 PMC: 7918533. DOI: 10.3390/genes12020263.

Hereditary Hearing Impairment with Cutaneous Abnormalities.

Lee T, Lin P, Chen P, Hong J, Wu C Genes (Basel). 2021; 12(1).

PMID: 33396879 PMC: 7823799. DOI: 10.3390/genes12010043.

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Slavotinek A Hum Genet. 2018; 138(8-9):831-846.

PMID: 30374660 DOI: 10.1007/s00439-018-1949-1.

References
1.
GOLTZ R, HENDERSON R, HITCH J, Ott J . Focal dermal hypoplasia syndrome. A review of the literature and report of two cases. Arch Dermatol. 1970; 101(1):1-11. DOI: 10.1001/archderm.101.1.1. View
2.
DELLEMAN J, Oorthuys J, Ter Haar B, Ferguson J . Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity. Clin Genet. 1984; 25(5):470-2. DOI: 10.1111/j.1399-0004.1984.tb02019.x. View
3.
Curry C, Magenis R, Brown M, Lanman Jr J, Tsai J, Olague P . Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med. 1984; 311(16):1010-5. DOI: 10.1056/NEJM198410183111603. View
4.
Hodgson S, Neville B, Jones R, Fear C, Bobrow M . Two cases of X/autosome translocation in females with incontinentia pigmenti. Hum Genet. 1985; 71(3):231-4. DOI: 10.1007/BF00284581. View
5.
Goodfellow P, Darling S, Wolfe J . The human Y chromosome. J Med Genet. 1985; 22(5):329-44. PMC: 1049475. DOI: 10.1136/jmg.22.5.329. View