J Korean Soc Pediatr Endocrinol.  2005 Jun;10(1):120-124.

A Case of Down-Turner Syndrome

• Jeong HJ
• Lee ES
• Choi KH
• Park YH

Abstract

Down-Turner syndrome is a rare disease with the incidence of 1 in 2 million. Although Down syndrome with various Turner's karyotype were reported occasionally since a report in 1962, it was not reported in Korea. We experienced a case of Down-Turner syndrome with 47, X, del(X)(p11.2), +21/ 47, XX, +21, who has clinical features of Down syndrome such as hypotonia, weak Moro reflex, round and wide face, flat occiput, epicanthal folds, upward slanting of the palpebral fissures, low set ears, a simian line on both palms and the brachydactyly of the right little finger with the appearance of Turner syndrome such as the edema of hands, webbed neck. We think it will be necessary to follow up the patient in regard to the aspects such as infertility, sexual infantilism, and primary amenorrhea.

Keyword

Down-Turner syndrome; Down syndrome; Turner syndrome

MeSH Terms

Amenorrhea
Brachydactyly
Down Syndrome
Ear
Edema
Female
Fingers
Follow-Up Studies
Hand
Humans
Incidence
Infertility
Karyotype
Korea
Muscle Hypotonia
Neck
Rare Diseases
Reflex
Sexual Infantilism
Turner Syndrome