1.
Prog. diagn. trat. prenat. (Ed. impr.)
; 18(2): 64-69, abr.-jun. 2006. ilus
Article
in Es
| IBECS
| ID: ibc-051381
ABSTRACT
No disponible
Subject(s)
Female , Pregnancy , Adult , Humans , Ultrasonography, Prenatal/methods , Down Syndrome , Chromosome Aberrations/embryology , Genetic Counseling , Translocation, Genetic/genetics
2.
Rev Clin Esp
; 178(3): 144-5, 1986 Feb.
Article
in Spanish
| MEDLINE
| ID: mdl-3010396
Subject(s)
Poland Syndrome/pathology , Syndactyly/pathology , Adolescent , Humans , Male , Poland Syndrome/surgery
3.
Clin Genet
; 28(1): 54-60, 1985 Jul.
Article
in English
| MEDLINE
| ID: mdl-4040823
ABSTRACT
Two sisters and an unrelated girl presented a distinct intrauterine growth retardation-malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, shortened 2nd toes, hypoplastic patella and skeletal dysplasia probably due to homozygosity from an autosomal recessive gene.
Subject(s)
Abnormalities, Multiple/genetics , Fetal Growth Retardation/genetics , Fingers/abnormalities , Child, Preschool , Dermatoglyphics , Female , Humans , Pregnancy , Syndrome
4.
J Genet Hum
; 33(1): 57-62, 1985 Jan.
Article
in English
| MEDLINE
| ID: mdl-3981143
ABSTRACT
A hitherto undescribed inv(2) (p2300q11.2) was found in 2 generations of a family ascertained through a holoprosencephalic liveborn boy with normal karyotype. This inversion, quite probably not related to the child malformations, does not seem neither impair reproductive fitness nor to yield viable recombination aneusomies.
