We report on a woman with incontinentia pigmenti (IP), who had two successive term pregnancies. The first pregnancy ended in the birth of a male infant, who is alive and well at 2 years. A second liveborn male had early postnatal distress and died after 1 day of life, after a fulminating clinical co
Second trimester miscarriage of a male fetus with incontinentia pigmenti
โ Scribed by Devriendt, Koen; Matthijs, Gert; Fryns, Jean-Pierre; Ballegeer, Veronique
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 10 KB
- Volume
- 80
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19981116)80:3<298::aid-ajmg26>3.0.co;2-y
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Male patients with Bloch-Sulzberger incontinentia pigmenti (IP type II) are rare and more severely affected than their female counterparts, with a significant occurrence of sex chromosome aneuploidy. This document introduces a new male IP type II patient and reviews 48 males reported with IP. Twenty
Amniocentesis on a 32-year-old woman at risk for trisomy 21 by maternal serum triple screen showed a 46,Y,inv(X) (p22.1q24) karyotype in all cells analyzed. A blood sample was obtained from the mother for cytogenetic evaluation. Since she had the same inversion, DNA replication studies were performe
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 smoo