Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three‐year follow‐up in one case

B. Sikkema‐Raddatz; R. H. Sijmons; M. B. Tan‐Sindhunata; A. Y. Van Der Veen; R. Brunsting; B. De Vries; J. R. Beekhuis; D. J. Bekedam; B. Van Aken; B. De Jong

doi:10.1002/pd.1970150510

Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three‐year follow‐up in one case

B. Sikkema‐Raddatz^*, R. H. Sijmons, M. B. Tan‐Sindhunata, A. Y. Van Der Veen, R. Brunsting, B. De Vries, J. R. Beekhuis, D. J. Bekedam, B. Van Aken, B. De Jong

^*Corresponding author for this work

Human genetics

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

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.

Original language	English
Pages (from-to)	467-473
Number of pages	7
Journal	Prenatal Diagnosis
Volume	15
Issue number	5
DOIs	https://doi.org/10.1002/pd.1970150510
Publication status	Published - 1 Jan 1995

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Sikkema‐Raddatz, B., Sijmons, R. H., Tan‐Sindhunata, M. B., Van Der Veen, A. Y., Brunsting, R., De Vries, B., Beekhuis, J. R., Bekedam, D. J., Van Aken, B., & De Jong, B. (1995). Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three‐year follow‐up in one case. Prenatal Diagnosis, 15(5), 467-473. https://doi.org/10.1002/pd.1970150510

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title = "Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three‐year follow‐up in one case",

abstract = "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.",

keywords = "counselling, de novo complex balanced rearrangements, FISH, follow‐up, prenatal diagnosis",

author = "B. Sikkema‐Raddatz and Sijmons, {R. H.} and Tan‐Sindhunata, {M. B.} and {Van Der Veen}, {A. Y.} and R. Brunsting and {De Vries}, B. and Beekhuis, {J. R.} and Bekedam, {D. J.} and {Van Aken}, B. and {De Jong}, B.",

year = "1995",

month = jan,

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doi = "10.1002/pd.1970150510",

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Sikkema‐Raddatz, B, Sijmons, RH, Tan‐Sindhunata, MB, Van Der Veen, AY, Brunsting, R, De Vries, B, Beekhuis, JR, Bekedam, DJ, Van Aken, B & De Jong, B 1995, 'Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three‐year follow‐up in one case', Prenatal Diagnosis, vol. 15, no. 5, pp. 467-473. https://doi.org/10.1002/pd.1970150510

TY - JOUR

T1 - Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three‐year follow‐up in one case

AU - Sikkema‐Raddatz, B.

AU - Sijmons, R. H.

AU - Tan‐Sindhunata, M. B.

AU - Van Der Veen, A. Y.

AU - Brunsting, R.

AU - De Vries, B.

AU - Beekhuis, J. R.

AU - Bekedam, D. J.

AU - Van Aken, B.

AU - De Jong, B.

PY - 1995/1/1

Y1 - 1995/1/1

N2 - 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.

AB - 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.

KW - counselling

KW - de novo complex balanced rearrangements

KW - FISH

KW - follow‐up

KW - prenatal diagnosis

UR - http://www.scopus.com/inward/record.url?scp=0029021613&partnerID=8YFLogxK

U2 - 10.1002/pd.1970150510

DO - 10.1002/pd.1970150510

M3 - Article

C2 - 7644437

AN - SCOPUS:0029021613

VL - 15

SP - 467

EP - 473

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

SN - 0197-3851

IS - 5

ER -

Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three‐year follow‐up in one case

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