Significance of cardiovascular malformations in cystic hygroma: a new interpretation of the pathogenesis

• Published in: American journal of medical genetics Vol. 34; no. 4; p. 489
• Main Authors: Miyabara, S, Sugihara, H, Maehara, N, Shouno, H, Tasaki, H, Yoshida, K, Saito, N, Kayama, F, Ibara, S, Suzumori, K
• Format: Journal Article
• Language: English
• Published: United States 01.12.1989
• Subjects: Abnormalities, Multiple - pathology; Chromosome Aberrations - pathology; Chromosome Disorders; Chromosomes, Human, Pair 13; Down Syndrome; Female; Fetal Diseases - genetics; Fetal Diseases - pathology; Heart Defects, Congenital - genetics; Heart Defects, Congenital - pathology; Humans; Lymphangioma - genetics; Lymphangioma - pathology; Male; Phenotype; Pregnancy; Trisomy

Fetuses with cystic hygroma or loose skin of the neck were studied chromosomally and phenotypically to clarify the relation between neck abnormality and cardiovascular malformations. Of 12 fetuses, 9 had chromosome abnormalities: 4 with 45,X, 3 with trisomy 21, one each with trisomy 13, dup 6q. One...