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Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.
Am J Med Genet. 1994 Jul 15; 51(4):591-7.AJ

Abstract

We report on two brothers and their two maternal uncles with severe mental retardation, congenital heart defect, cleft or highly arched palate, short stature and craniofacial anomalies consisting of microcephaly, abnormal ears, bulbous nose, broad nasal bridge, malar hypoplasia, and micrognathia. Three of the four patients died at an early age. The mother of the two brothers had an atrial septal defect. She is assumed to be a manifesting carrier of a mutant gene, which is expressed in her two sons and two brothers. By multipoint linkage analysis it is found that the most likely location of the responsible gene is the pericentromeric region Xp21.3-q21.3 with DMD and DXS3 as flanking markers. Maximum information is obtained with marker DXS453 (Z = 1.20 at theta = 0.0).

Authors+Show Affiliations

Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

7943045

Citation

Hamel, B C., et al. "Mental Retardation, Congenital Heart Defect, Cleft Palate, Short Stature, and Facial Anomalies: a New X-linked Multiple Congenital Anomalies/mental Retardation Syndrome: Clinical Description and Molecular Studies." American Journal of Medical Genetics, vol. 51, no. 4, 1994, pp. 591-7.
Hamel BC, Mariman EC, van Beersum SE, et al. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. Am J Med Genet. 1994;51(4):591-7.
Hamel, B. C., Mariman, E. C., van Beersum, S. E., Schoonbrood-Lenssen, A. M., & Ropers, H. H. (1994). Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. American Journal of Medical Genetics, 51(4), 591-7.
Hamel BC, et al. Mental Retardation, Congenital Heart Defect, Cleft Palate, Short Stature, and Facial Anomalies: a New X-linked Multiple Congenital Anomalies/mental Retardation Syndrome: Clinical Description and Molecular Studies. Am J Med Genet. 1994 Jul 15;51(4):591-7. PubMed PMID: 7943045.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. AU - Hamel,B C, AU - Mariman,E C, AU - van Beersum,S E, AU - Schoonbrood-Lenssen,A M, AU - Ropers,H H, PY - 1994/7/15/pubmed PY - 1994/7/15/medline PY - 1994/7/15/entrez SP - 591 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 51 IS - 4 N2 - We report on two brothers and their two maternal uncles with severe mental retardation, congenital heart defect, cleft or highly arched palate, short stature and craniofacial anomalies consisting of microcephaly, abnormal ears, bulbous nose, broad nasal bridge, malar hypoplasia, and micrognathia. Three of the four patients died at an early age. The mother of the two brothers had an atrial septal defect. She is assumed to be a manifesting carrier of a mutant gene, which is expressed in her two sons and two brothers. By multipoint linkage analysis it is found that the most likely location of the responsible gene is the pericentromeric region Xp21.3-q21.3 with DMD and DXS3 as flanking markers. Maximum information is obtained with marker DXS453 (Z = 1.20 at theta = 0.0). SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7943045/Mental_retardation_congenital_heart_defect_cleft_palate_short_stature_and_facial_anomalies:_a_new_X_linked_multiple_congenital_anomalies/mental_retardation_syndrome:_clinical_description_and_molecular_studies_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=51&issue=4&spage=591 DB - PRIME DP - Unbound Medicine ER -