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Prenatal diagnosis of partial trisomy 3p (3p21-->pter) and partial monosomy 11q (11q23-->qter) associated with abnormal sonographic findings of holoprosencephaly, orofacial clefts, pyelectasis and a unilateral duplex renal system.
J Formos Med Assoc. 2008 Oct; 107(10):822-6.JF

Abstract

Patients with partial trisomy 3p seldom present major dysmorphic features, and holoprosencephaly occurs in only 10% of the cases with partial trisomy 3p. It has been suggested that multiple genetic hits or environmental exposures are required for the clinical expression of holoprosencephaly. At 16 weeks of gestation, prenatal sonography identified a fetus with holoprosencephaly, orofacial clefts, pyelectasis, and a unilateral duplex renal system. Amniocentesis revealed the karyotype of 46,XX,der(11)t(3;11)(p21;q23)pat with partial trisomy 3p (3p21-->pter) and partial monosomy 11q (11q23-->qter). The pregnancy was subsequently terminated. Postnatally, the proband showed hypotelorism, a depressed nasal bridge, orofacial clefts and holoprosencephaly-premaxillary agenesis. The present case provides evidence that partial trisomy 3p/monosomy 11q can be a genetic cause of holoprosencephaly and del(11)(q23-->qter) is associated with a duplex renal system.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.comNo 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

18926951

Citation

Chen, Chih-Ping, et al. "Prenatal Diagnosis of Partial Trisomy 3p (3p21-->pter) and Partial Monosomy 11q (11q23-->qter) Associated With Abnormal Sonographic Findings of Holoprosencephaly, Orofacial Clefts, Pyelectasis and a Unilateral Duplex Renal System." Journal of the Formosan Medical Association = Taiwan Yi Zhi, vol. 107, no. 10, 2008, pp. 822-6.
Chen CP, Wang TH, Lin CC, et al. Prenatal diagnosis of partial trisomy 3p (3p21-->pter) and partial monosomy 11q (11q23-->qter) associated with abnormal sonographic findings of holoprosencephaly, orofacial clefts, pyelectasis and a unilateral duplex renal system. J Formos Med Assoc. 2008;107(10):822-6.
Chen, C. P., Wang, T. H., Lin, C. C., Tsai, F. J., Hsieh, L. J., & Wang, W. (2008). Prenatal diagnosis of partial trisomy 3p (3p21-->pter) and partial monosomy 11q (11q23-->qter) associated with abnormal sonographic findings of holoprosencephaly, orofacial clefts, pyelectasis and a unilateral duplex renal system. Journal of the Formosan Medical Association = Taiwan Yi Zhi, 107(10), 822-6. https://doi.org/10.1016/S0929-6646(08)60197-7
Chen CP, et al. Prenatal Diagnosis of Partial Trisomy 3p (3p21-->pter) and Partial Monosomy 11q (11q23-->qter) Associated With Abnormal Sonographic Findings of Holoprosencephaly, Orofacial Clefts, Pyelectasis and a Unilateral Duplex Renal System. J Formos Med Assoc. 2008;107(10):822-6. PubMed PMID: 18926951.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of partial trisomy 3p (3p21-->pter) and partial monosomy 11q (11q23-->qter) associated with abnormal sonographic findings of holoprosencephaly, orofacial clefts, pyelectasis and a unilateral duplex renal system. AU - Chen,Chih-Ping, AU - Wang,Tzu-Hao, AU - Lin,Chyi-Chyang, AU - Tsai,Fuu-Jen, AU - Hsieh,Lie-Jiau, AU - Wang,Wayseen, PY - 2008/10/18/pubmed PY - 2009/1/28/medline PY - 2008/10/18/entrez SP - 822 EP - 6 JF - Journal of the Formosan Medical Association = Taiwan yi zhi JO - J Formos Med Assoc VL - 107 IS - 10 N2 - Patients with partial trisomy 3p seldom present major dysmorphic features, and holoprosencephaly occurs in only 10% of the cases with partial trisomy 3p. It has been suggested that multiple genetic hits or environmental exposures are required for the clinical expression of holoprosencephaly. At 16 weeks of gestation, prenatal sonography identified a fetus with holoprosencephaly, orofacial clefts, pyelectasis, and a unilateral duplex renal system. Amniocentesis revealed the karyotype of 46,XX,der(11)t(3;11)(p21;q23)pat with partial trisomy 3p (3p21-->pter) and partial monosomy 11q (11q23-->qter). The pregnancy was subsequently terminated. Postnatally, the proband showed hypotelorism, a depressed nasal bridge, orofacial clefts and holoprosencephaly-premaxillary agenesis. The present case provides evidence that partial trisomy 3p/monosomy 11q can be a genetic cause of holoprosencephaly and del(11)(q23-->qter) is associated with a duplex renal system. SN - 0929-6646 UR - https://www.unboundmedicine.com/medline/citation/18926951/Prenatal_diagnosis_of_partial_trisomy_3p__3p21__>pter__and_partial_monosomy_11q__11q23__>qter__associated_with_abnormal_sonographic_findings_of_holoprosencephaly_orofacial_clefts_pyelectasis_and_a_unilateral_duplex_renal_system_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0929-6646(08)60197-7 DB - PRIME DP - Unbound Medicine ER -