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Title: An apparently de novo translocation in a neonate involving chromosomes 3 and 19 [t(3:19)(p21;q13.1)]

A 7 1/2-week-old infant female was referred for cytogenetic evaluation after she developed a left inguinal hernia containing a gonadal mass. She had been born to a 25-year-old mother after approximately 31 weeks gestation. This was the couple`s first pregnancy. She was small for gestational age. Her weight was 835 g, length was 32 cm, head circumference was 26 cm at birth. She developed hypothyroidism requiring synthroid. There were no other obvious dysmorphisms. The cytogenetic findings with G-banding revealed an apparently-balanced translocation involving chromosomes 3 and 19. The patient`s karyotype revealed 46,XX,t(3;19)(q21;q13.1). Parental chromosomes were found to be normal. Because of the increased risk for developmental and other congenital problems in an individual with a {open_quotes}de novo translocation{close_quotes} (even when the rearrangement appears balanced), this infant is being followed regularly. Evaluation at 5 months of age revealed a small but thriving female infant who is alert and developmentally appropriate. She is still receiving synthroid. We are in the process of analyzing this case further using chromosome paint probes for chromosomes 3 and 19 to identify the break points more precisely. This would allow us to assess with greater accuracy if this is a {open_quotes}balanced{close_quotes} translocation.
Authors:
; ;  [1]
  1. Nassau County Medical Center, East Meadow, NY (United States) [and others
Publication Date:
OSTI Identifier:
134611
Report Number(s):
CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-1348
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 3; CHROMOSOMAL ABERRATIONS; HUMAN CHROMOSOME 19; PATIENTS; KARYOTYPE; HYPOTHYROIDISM; PROBES; BANDING TECHNIQUES