PRENATAL-DIAGNOSIS IN 2 CASES OF DE-NOVO COMPLEX BALANCED CHROMOSOMAL REARRANGEMENTS - 3-YEAR FOLLOW-UP IN ONE CASE

B SIKKEMARADDATZ*, RH SIJMONS, MB TANSINDHUNATA, AY VANDERVEEN, R BRUNSTING, B DEVRIES, [No Value] BEEKHUIS, DJ BEKEDAM, B VANAKEN, B DEJONG

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

19 Citaten (Scopus)

Samenvatting

We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.

Originele taal-2English
Pagina's (van-tot)467-473
Aantal pagina's7
TijdschriftPrenatal Diagnosis
Volume15
Nummer van het tijdschrift5
StatusPublished - mei-1995

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