Document Detail

A pregnancy following PGD for X-linked dominant [correction of X-linked autosomal dominant] incontinentia pigmenti (Bloch-Sulzberger syndrome): case report.
MedLine Citation:
PMID:  11098039     Owner:  NLM     Status:  MEDLINE    
Incontinentia Pigmenti (Bloch-Sulzberger syndrome) is a rare multisystem, ectodermal disorder associated with dermatological, dental and ocular features, and in <10% of cases, severe neurological deficit. Pedigree review suggests X-linked dominance with lethality in affected males. Presentation in female carriers is variable. Following genetic counselling, a mildly affected female carrier diagnosed in infancy with a de novo mutation was referred for preimplantation sexing, unusually selecting for male gender, with an acceptance of either normality or early miscarriage in an affected male. Following standard in-vitro fertilization and embryo biopsy, fluorescence in situ hybridization (FISH) unambiguously identified two male and two female embryos. A single 8-cell, grade 4 male embryo was replaced. A positive pregnancy test was reported 2 weeks after embryo transfer, although ultrasonography failed to demonstrate a viable pregnancy. Post abortive fetal tissue karyotyping diagnosed a male fetus with trisomy 16. This is an unusual report of preimplantation genetic diagnosis (PGD) being used for selection of males in an X-linked autosomal dominant disorder and demonstrates the value of PGD where amniocentesis or chorion villus sampling followed by abortion is not acceptable to the patient. This case also demonstrates the importance of follow-up prenatal diagnosis.
R Pettigrew; H C Kuo; P Scriven; P Rowell; K Pal; A Handyside; P Braude; C M Ogilvie
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  15     ISSN:  0268-1161     ISO Abbreviation:  Hum. Reprod.     Publication Date:  2000 Dec 
Date Detail:
Created Date:  2001-01-03     Completed Date:  2001-01-18     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  2650-2     Citation Subset:  IM    
Guy's and St Thomas' Centre for Preimplantation Genetic Diagnosis, Guy's, King's and St Thomas' School of Medicine, Guy's and St Thomas' Hospital, London SE1 7EH, UK.
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MeSH Terms
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 18
Embryo Transfer
Fertilization in Vitro
Heterozygote Detection
In Situ Hybridization, Fluorescence
Incontinentia Pigmenti / diagnosis*,  genetics*
Linkage (Genetics)
Preimplantation Diagnosis*
Prenatal Diagnosis
Sex Determination (Analysis)
Sperm Injections, Intracytoplasmic
X Chromosome*
Y Chromosome
Erratum In:
Hum Reprod 2001 Jun;16(6):1308

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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