PMID- 9508062
OWN - NLM
STAT- MEDLINE
DCOM- 19980421
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 76
IP  - 1
DP  - 1998 Feb 26
TI  - Second 46,XX male with MLS syndrome.
PG  - 37-41
AB  - 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.
FAU - Stratton, R F
AU  - Stratton RF
AD  - Department of Pediatrics, University of Texas Health Science Center, San Antonio 
      78284-7802, USA.
FAU - Walter, C A
AU  - Walter CA
FAU - Paulgar, B R
AU  - Paulgar BR
FAU - Price, M E
AU  - Price ME
FAU - Moore, C M
AU  - Moore CM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Agenesis of Corpus Callosum
MH  - Cornea/abnormalities
MH  - Heart Septal Defects, Atrial/genetics
MH  - Humans
MH  - Hypospadias/complications/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Microphthalmos/complications/*genetics/pathology
MH  - Rectal Fistula/complications/genetics
MH  - Skin Abnormalities/complications/*genetics/pathology
MH  - Syndrome
MH  - Translocation, Genetic
MH  - X Chromosome/genetics
MH  - Y Chromosome/genetics
EDAT- 1998/03/21 03:23
MHDA- 2000/06/20 09:00
CRDT- 1998/03/21 03:23
PHST- 1998/03/21 03:23 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/03/21 03:23 [entrez]
AID - 10.1002/(SICI)1096-8628(19980226)76:1<37::AID-AJMG6>3.0.CO;2-M [pii]
AID - 10.1002/(sici)1096-8628(19980226)76:1<37::aid-ajmg6>3.0.co;2-m [doi]
PST - ppublish
SO  - Am J Med Genet. 1998 Feb 26;76(1):37-41. doi: 
      10.1002/(sici)1096-8628(19980226)76:1<37::aid-ajmg6>3.0.co;2-m.