Biomaterial Database

Second 46,XX male with MLS syndrome. 1998

R F Stratton, and C A Walter, and B R Paulgar, and M E Price, and C M Moore

Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284-7802, USA.

We report on a second 46,XX male with microphthalmia with linear skin defects (MLS) syndrome. In addition to microphthalmia and linear skin streaks, he had a secundum ASD, hypospadias with chordee, anal fistula, and agenesis of corpus callosum with colpocephaly. Biopsy of a linear streak showed smooth muscle hamartomata rather than the presumed dermal aplasia. Detailed ophthalmologic examination did not show retinal lacunae typical of Aicardi syndrome. DNA studies with distal Xp specific probes indicated a deletion in one X chromosome and fluorescence in situ hybridization (FISH) studies with X- and Y-specific probes demonstrated the presence of a derivative X chromosome from an X;Y translocation.

UI	MeSH Term	Description	Entries
D007021	Hypospadias	A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.	Hypospadia
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297	Male		Males
D008850	Microphthalmos	Congenital or developmental anomaly in which the eyeballs are abnormally small.	Microphthalmia
D012003	Rectal Fistula	An abnormal anatomical passage connecting the RECTUM to the outside, with an orifice at the site of drainage.	Anal Fistula,Fistula, Rectal
D003315	Cornea	The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed)	Corneas
D006344	Heart Septal Defects, Atrial	Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects.	Atrial Septal Defects,Ostium Primum Atrial Septal Defect,Persistent Ostium Primum,Atrial Septal Defect,Atrial Septal Defect Ostium Primum,Ostium Secundum Atrial Septal Defect,Defect, Atrial Septal,Ostium Primum, Persistent,Primum, Persistent Ostium,Septal Defect, Atrial
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012868	Skin Abnormalities	Congenital structural abnormalities of the skin.	Abnormalities, Skin,Abnormality, Skin,Skin Abnormality