Reply to Hsu

Journal Article · Fri Mar 01 04:00:00 EST 1996 · American Journal of Human Genetics

OSTI ID:381289

Sybert, V P; Koeberl, D; McGillivray, B ^[1]

---

1. Univ. of Washington, Seattle, WA (United States); and others

Thank you for the opportunity to respond to Dr. Hsu`s letter. Hsu rightly points out that the major features of Turner syndrome - short stature and sexual infantilism or gonadal dysgenesis - are not manifested until later childhood or adolescence. This makes interpretation of outcome data that are based only on features seen at birth problematic at best. In her excellent chapter to which she refers, the information provided regarding the outcome of the prenatal diagnosis of 45,X/46,XX Turner syndrome, in its entirety, is as follows: 189 cases of 45X,/46,XX were diagnosed. There was information regarding phenotypic outcome in 114 of these. Twelve (10.5%) had {open_quotes}some features{close_quotes} of Turner syndrome. These features were not described. Four (3.5%) had {open_quotes}other anomalies probably not related to Turner syndrome{close_quotes}. These other anomalies were not detailed. Two (1.75%) {open_quotes}resulted in stillbirths{close_quotes}. In 91 of these 114 cases, there was cytogenetic evaluation after birth. Seventy-eight of these (85.7%) had mosaicism confirmed by karyotyping of live-born or fetal tissues. There is no information regarding the indications for prenatal diagnosis (i.e., maternal age vs. fetal abnormality detected by ultrasound). There is no information regarding the age of this cohort at follow-up evaluation; by inference, some must have been deemed phenotypically normal at autopsy after termination, since fetal tissue was the basis for cytogenetic confirmation. There is no information regarding either the scope of the evaluation after birth (i.e., physical examination, laboratory evaluation for ovarian function, echocardiogram or renal ultrasound, intelligence testing, or growth data) or who performed the evaluation. Thus, there is little substantive evidence to support the contention of normalcy in this cohort. 3 refs.

• OSTI ID: 381289
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 3 Vol. 58; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
DIAGNOSIS
HEREDITARY DISEASES
HUMAN X CHROMOSOME
MOSAICISM
NEONATES
PHENOTYPE
UROGENITAL SYSTEM DISEASES