Behaviour disorder in monosomy 10qter.

Journal of medical genetics ·Vol. 24 ·No. 3 ·1987-03-00 ·Pages 185-6

Mehta L, Duckett DP, Young ID

Abstract

暂无摘要

MeSH Terms

Child Child Behavior Disorders/genetics Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 10 Growth Disorders/genetics Humans Intellectual Disability/genetics Male Monosomy

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Mehta L

Duckett D P

Young I D

References (17)

17 references, click to expand

The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.
Clin Genet. 1981 May;19(5):321-30 PMID: 7028327
Further delineation of the C (trigonocephaly) syndrome.
Am J Med Genet. 1981;9(2):147-63 PMID: 7258228
Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome.
Am J Med Genet. 1983 Mar;14(3):423-8 PMID: 6859093
Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome.
Am J Med Genet. 1983 Mar;14(3):429-33 PMID: 6859094
Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome.
J Pediatr. 1983 Sep;103(3):425-7 PMID: 6886911
Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia.
Clin Genet. 1984 Apr;25(4):366-72 PMID: 6713715
A computerised data base for the diagnosis of rare dysmorphic syndromes.
J Med Genet. 1984 Apr;21(2):121-3 PMID: 6371233
Smith-Lemli-Opitz syndrome and Hirschsprung disease.
J Pediatr. 1984 Jul;105(1):177 PMID: 6737144
A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations.
Am J Med Genet. 1984 Oct;19(2):255-64 PMID: 6507477
Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome?
Am J Med Genet. 1985 Jun;21(2):271-7 PMID: 4040328
Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases.
Acta Paediatr Suppl. 1955 Nov;44(Suppl 104):7-110 PMID: 13292296
Micrognathia, polydactyly, and cleft palate.
J Pediatr. 1968 Jun;72(6):859-61 PMID: 5652614
Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.
Clin Genet. 1974;5(4):285-93 PMID: 4211825
Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.
J Pediatr. 1974 Sep;85(3):373-5 PMID: 4431498
A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities.
Hum Genet. 1979;50(1):65-70 PMID: 381161
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.
Am J Med Genet. 1980;7(1):47-74 PMID: 7211952
Intestinal aganglionosis in the Smith-Lemli-Opitz syndrome.
Acta Paediatr Scand. 1983 Jan;72(1):141-3 PMID: 6858679

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.24.3.185

Published

1987-03-00

Pages

185-6

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1049957

Subset

External Links

PubMed source DOI: 10.1136/jmg.24.3.185 PMC Full Text View journal details

Analysis Services

Behaviour disorder in monosomy 10qter.

Contact

WeChat Official Account