[tri-med] FYI - T9p/T10p

I am forwarding this article or URL for your information (FYI) as I believe
it may be of interest and is from a reliable source. As always, check the
information with your own doctor or health care professional before starting
or changing any treatments.

Fetal Diagnosis & Therapy
Vol. 17, No. 4, 2002

Paper

A Fetus with Trisomy 9p and Trisomy 10p Originating from Unbalanced
Segregation of a Maternal Complex Chromosome Rearrangement t(4;10;9)
Markus Hengstschlägera, Dieter Bettelheima, Christa Repaa, Susanna Langb,
Josef Deutingera, Gerhard Bernascheka
aObstetrics and Gynecology, Prenatal Diagnosis and Therapy, and bClinical
Pathology of the University of Vienna, Austria

Fetal Diagnosis and Therapy 17:4:2002, 243-246.

Abstract
Complex chromosome rearrangements are only rarely seen in constitutional
karyotypes. A case of prenatally detected trisomy 9p with trisomy 10p
originating from adjacent segregation of a maternal complex chromosome
rearrangement is reported. Ultrasound examination at 18 weeks of gestation
showed cleft lip palate, club feet, structural anomalies of the cerebellum
and cystic kidneys. Cytogenetic analysis of amnion cells revealed a female
fetus with 47,XX,+der(9). FISH analyses together with parental karyotyping
demonstrated the fetal additional chromosome to originate from
malsegregation of a maternal complex chromosomal rearrangement. The mother
is carrier of a balanced translocation t(4;10;9) (q12; p11;q13). Postmortem
examination of the fetus showed nose anomalies, cleft lip palate, low set
ears, club feet, lung anomalies, cystic kidney and aplasia of the uterus.
Reporting of such rare cases is important in order to enable this
information to be used for genetic counselling in similar situations.

Copyright © 2002 S. Karger AG, Basel

http://www.online.karger.com/library/karger/renderer/dataset.exe?jcode=FDT&a
ction=render&rendertype=abstract&uid=FDT.fdt17243

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