Agenesis of the left hemidiaphragm in only one member of monozygotic twins

This is the second reported case of monozygotic twins in which one baby was normal, but one had agenesis of the left hemidiaphragm (AHD). Associated anomalies were a patent ductus arteriosus and atrial septal defect. The patient died due to persistent fetal circulation with a pulmonary hypertensive crisis. This report examines another rare example that contradicts a genetic etiology of AHD. Autopsy findings are described, along with a review of the literature.     

Simultaneous onset of type 1 diabetes in monozygotic twins younger than 1 year

This report describes type 1 insulin deficient diabetes mellitus (IDDM) arising in identical twins aged under one year. One twin presented with symptoms and was diagnosed with type 1 IDDM; the diagnosis of type 1 IDDM was simultaneously made in the second twin without clinical symptoms. Both twins were positive for anti-GAD (glutamic acid decarboxylase) antibody at first, and then positive for islet cell antibodies. Interestingly, the twins have four susceptible HLA DR and DQ genes together that are usually recognized separately in IDDM patients in Japan.     

A new case of partial trisomy of 17 long arm. Densitometric analysis of aberrations

Partial trisomy of the long arm of the chromosome 17 was found in a male infant with severe psychomotor retardation and numerous developmental anomalies. Differential staining with GTG, QFQ and CBG methods revealed an excess of genetic material on the short arm of chromosome 14, which was preliminarily identified as the distal part of chromosome 17q. Using an automatic picture analyser, chromosome break points were found in the 17q12 and 14p12 bands. The patient's karyotype was identified as 46,XY,t(14;17) (14qter14p12:17q1217ater).This work is partially supported by Grant No. 06.9 of the Polish Academy of Sciences