Hydrops fetalis in three male fetuses of a female with incontinentia pigmenti.
OBJECTIVE
Careful investigation of hydrops fetalis (HF) is important with regard to genetic counselling and prenatal diagnosis. HF is known to be associated with various genetic disorders. To date there has been only one report of a male fetus in whom incontinentia pigmenti (IP) was associated with generalised oedema. We describe a family who had a girl with clinical signs of IP after three consecutive miscarriages of three male fetuses due to HF.


RESULTS
Molecular genetic analysis showed a mutation in the NEMO/IKK(chi) gene in the girl and the mother, which confirmed the diagnosis of IP in both cases. In the two fetuses that could be investigated, inheritance of the affected maternal X chromosome could be demonstrated retrospectively by linkage analysis.


CONCLUSIONS
The present findings suggest that IP might be an X-linked dominant trait causing HF in male fetuses. In cases of recurrent HF in male fetuses, minimal signs of IP in the maternal line should therefore be carefully investigated in order to be able to perform mutational analysis and to offer appropriate genetic counselling.
Dufke
A
A
Institute of Anthropology and Human Genetics, Division of Medical Genetics, University of Tübingen, Wilhelmstrasse 27, 72074 Tübingen, Germany. andreas.dufke@uni-tuebingen.de
Vollmer
B
B
Kendziorra
H
H
Mackensen-Haen
S
S
Orth
U
U
Orlikowsky
T
T
Gal
A
A
D000022:Abortion, Spontaneous / Q000235:genetics; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005817:Genetic Counseling; D008040:Genetic Linkage; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics*; D051550:I-kappa B Kinase; D007184:Incontinentia Pigmenti / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D014960:X Chromosome
D017346:Protein Serine-Threonine Kinases; C496559:CHUK protein, human; D051550:I-kappa B Kinase; C496560:IKBKB protein, human; C496565:IKBKE protein, human