Characterization of Obesity in the Prader-Labhart-Willi Syndrome: Fatness Patterning.

A multidisciplinary study involving cytogenetic, clinical, and anthropometric assessments of Prader-Labhart-Willi Syndrome (PLWS) has focused on improving diagnosis and prognosis in this complex condition. Since one of the major features of PLWS is obesity, 7 of the 26 measurements in the anthropometric evaluation were skinfold thicknesses at different body sites. Forty individuals with PLWS have been assessed.

TOWNES-BROCKS SYNDROME: REPORT OF THREE ADDITIONAL PATIENTS WITH PREVIOUSLY UNDESCRIBED RENAL AND CARDIAC ABNORMALITIES.

Cardiac and renal abnormalities have been reported infrequently in Townes-Brocks syndrome. This paper presents three new patients with this syndrome; previously undescribed cardiac and renal abnormalities consisting of truncus arteriosus, ventricular septal defect, unilateral renal agenesis, and renal dysplasia are presented. The spectrum of findings in this syndrome should include cardiac and renal abnormalities.

FAMILIAL LARYNGEAL WEB IN THREE GENERATIONS WITH PROBABLE AUTOSOMAL DOMINANT TRANSMISSION.

We report a family with congenital anterior laryngeal web in three males and two females in three successive generations. The maternal grandmother of our proband had a spontaneous occurrence of the web, which subsequently was transmitted in a probable autosomal dominant pattern. A left vocal cord paralysis was documented in two of the affected members.

Sister Chromatid Exchanges in A Male With A Y/Y Translocation.

Sister chromatid exchanges (SCE) are considered indicators of genetic damage and early chromosome changes. The SCE frequency from an infertile 27-year-old, white male with tall stature and a nondicentric Y/Y translocation consisting of one short arm and two long arms of the Y chromosome was determined. The SCE frequency was 7.