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Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia.
Prenat Diagn. 1999 Oct; 19(10):986-9.PD

Abstract

We report the prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine growth retardation and cranio-facial abnormalities. Level II ultrasonograms further demonstrated alobar holoprosencephaly, a proboscis above the eye and a single median orbit consistent with cyclopia. Genetic analysis and fluorescence in situ hybridization on cells obtained from amniocentesis showed distal 3p trisomy (3p23-->pter) and 7q36 deletion, 46,XX,der(7)t(3;7)(p23;q36), resulting from a paternal t(3;7) reciprocal translocation. The pregnancy was terminated. Autopsy further confirmed the presence of arrhinencephaly, agenesis of the corpus callosum and a single ventricle of the brain. The phenotype of this antenatally diagnosed case is compared with those observed in 10 previously reported cases with simultaneous occurrence of partial trisomy 3p and terminal deletion 7q. All cases are associated with severe forms of holoprosencephaly and facial dysmorphism. This delineates an autosomal imbalance syndrome or a dosage effect involving duplication of distal 3p/deficiency of terminal 7q and dysmorphogenesis of the forebrain and mid-face.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, ROC.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10521829

Citation

Chen, C P., et al. "Prenatal Diagnosis of Partial Trisomy 3p(3p23-->pter) and Monosomy 7q(7q36-->qter) in a Fetus With Microcephaly Alobar Holoprosencephaly and Cyclopia." Prenatal Diagnosis, vol. 19, no. 10, 1999, pp. 986-9.
Chen CP, Devriendt K, Lee CC, et al. Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia. Prenat Diagn. 1999;19(10):986-9.
Chen, C. P., Devriendt, K., Lee, C. C., Chen, W. L., Wang, W., & Wang, T. Y. (1999). Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia. Prenatal Diagnosis, 19(10), 986-9.
Chen CP, et al. Prenatal Diagnosis of Partial Trisomy 3p(3p23-->pter) and Monosomy 7q(7q36-->qter) in a Fetus With Microcephaly Alobar Holoprosencephaly and Cyclopia. Prenat Diagn. 1999;19(10):986-9. PubMed PMID: 10521829.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia. AU - Chen,C P, AU - Devriendt,K, AU - Lee,C C, AU - Chen,W L, AU - Wang,W, AU - Wang,T Y, PY - 1999/10/16/pubmed PY - 1999/10/16/medline PY - 1999/10/16/entrez SP - 986 EP - 9 JF - Prenatal diagnosis JO - Prenat Diagn VL - 19 IS - 10 N2 - We report the prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine growth retardation and cranio-facial abnormalities. Level II ultrasonograms further demonstrated alobar holoprosencephaly, a proboscis above the eye and a single median orbit consistent with cyclopia. Genetic analysis and fluorescence in situ hybridization on cells obtained from amniocentesis showed distal 3p trisomy (3p23-->pter) and 7q36 deletion, 46,XX,der(7)t(3;7)(p23;q36), resulting from a paternal t(3;7) reciprocal translocation. The pregnancy was terminated. Autopsy further confirmed the presence of arrhinencephaly, agenesis of the corpus callosum and a single ventricle of the brain. The phenotype of this antenatally diagnosed case is compared with those observed in 10 previously reported cases with simultaneous occurrence of partial trisomy 3p and terminal deletion 7q. All cases are associated with severe forms of holoprosencephaly and facial dysmorphism. This delineates an autosomal imbalance syndrome or a dosage effect involving duplication of distal 3p/deficiency of terminal 7q and dysmorphogenesis of the forebrain and mid-face. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/10521829/Prenatal_diagnosis_of_partial_trisomy_3p_3p23__>pter__and_monosomy_7q_7q36__>qter__in_a_fetus_with_microcephaly_alobar_holoprosencephaly_and_cyclopia_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0197-3851&date=1999&volume=19&issue=10&spage=986 DB - PRIME DP - Unbound Medicine ER -