Courtens, W

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. [electronic resource] - American journal of medical genetics May 1998 - 188-97 p. digital

Publication Type: Case Reports; Journal Article

0148-7299


Abnormalities, Multiple--diagnosis
Abortion, Induced
Adult
Chromosome Deletion
Chromosomes, Human, Pair 5
Clubfoot--diagnostic imaging
Connective Tissue Diseases--congenital
Contracture--congenital
DNA--blood
Female
Fetal Diseases--diagnosis
Fibrillin-2
Fibrillins
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Marfan Syndrome--diagnosis
Microfilament Proteins--genetics
Pregnancy
Prenatal Diagnosis
Ultrasonography, Prenatal