Abstract

The long-term objectives of this study are to continue to establish the developmental course of a group of individuals with sex chromosome aneuploidy identified at birth in an unbiased fashion. Sixty-eight propositi were identified by checking the sex chromatin status of 40,371 consecutive births in two Denver hospitals from 1964 to 1974. Forty-six of these have been followed with their families prospectively since birth in this Family Development Study. Wherever possible, siblings are used as controls. The original propositi will be either in late adolescence or early adult-hood. Gender identity, sexual and reproductive activity, and adaptation to adult life will be documented. Neuromuscular, neuropsychological, psychiatric, and endocrine evaluation will be particularly emphasized. The nature of the interaction between propositi, their families, and their peers will be documented.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Project (R01)
Project #
2R01HD010032-11A1
Application #
3311214
Study Section
Human Development and Aging Subcommittee 1 (HUD)
Project Start
1976-05-01
Project End
1991-12-31
Budget Start
1987-01-01
Budget End
1987-12-31
Support Year
11
Fiscal Year
1987
Total Cost
Indirect Cost

  Institution

Name
National Jewish Health
Department
Type
DUNS #
City
Denver
State
CO
Country
United States
Zip Code
80206

  Publications

Patwardhan, Anil J; Brown, Wendy E; Bender, Bruce G et al. (2002) Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypes. Am J Med Genet 114:93-8
Linden, Mary G; Bender, Bruce G; Robinson, Arthur (2002) Genetic counseling for sex chromosome abnormalities. Am J Med Genet 110:3-10
Linden, Mary G; Bender, Bruce G (2002) Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Am J Med Genet 110:11-8
Bender, B G; Linden, M G; Harmon, R J (2001) Life adaptation in 35 adults with sex chromosome abnormalities. Genet Med 3:187-91
Bender, B G; Linden, M G; Harmon, R J (2001) Neuropsychological and functional cognitive skills of 35 unselected adults with sex chromosome abnormalities. Am J Med Genet 102:309-13
Patwardhan, A J; Eliez, S; Bender, B et al. (2000) Brain morphology in Klinefelter syndrome: extra X chromosome and testosterone supplementation. Neurology 54:2218-23
Harmon, R J; Bender, B G; Linden, M G et al. (1998) Transition from adolescence to early adulthood: adaptation and psychiatric status of women with 47,XXX. J Am Acad Child Adolesc Psychiatry 37:286-91
Linden, M G; Bender, B G; Robinson, A (1996) Intrauterine diagnosis of sex chromosome aneuploidy. Obstet Gynecol 87:468-75
Linden, M G; Bender, B G; Robinson, A (1995) Sex chromosome tetrasomy and pentasomy. Pediatrics 96:672-82
Bender, B G; Harmon, R J; Linden, M G et al. (1995) Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities. Pediatrics 96:302-8

Showing the most recent 10 out of 21 publications