Chromosomal anomalies in patients with short stature

Pediatrics International

Volumn 47, Issue 5, 2005, Pages 546-549

  Moreno García, Marta ^a,b   Fernández Martínez, Francisco Javier ^a   Miranda, Emilia Barreiro ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b NONE   (Spain)

Author keywords

Chromosomal analysis; Cytogenetics; Karyotype; Short stature; Turner syndrome

Indexed keywords

ADOLESCENT; ADULT; AMENORRHEA; ARTICLE; CELL CULTURE; CHILD; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONTROLLED STUDY; FAMILIAL INCIDENCE; FEMALE; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; NEWBORN; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SHORT STATURE;

ADOLESCENT; ADULT; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; FEMALE; GROWTH DISORDERS; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; RETROSPECTIVE STUDIES;

EID: 29144438076     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1442-200x.2005.02120.x     Document Type: Article

References (13)

1. Musebeck J, Mohnike K, Beye P et al. Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature. Eur. J. Pediatr. 2001; 160: 561-5.
2. Kirsch S, Weiss B, Schon K, Rappold GA. The definition of the Y chromosome growth-control gene (GCY) critical region: relevance of terminal and interstitial deletions. J. Pediatr. Endocrinol. Metab. 2002; 15 (Suppl. 5): 1295-300.
3. Skare J, Drwinga H, Wyandt H, Spek J, Troxler R, Milunsky A. Interstitial deletion involving most of Yq. Am. J. Med. Genet. 1990; 36: 394-7.
4. Eggert P, Pankau R, Oldigs HD. How necessary is a chromosomal analysis in growth-retarded girls? Clin. Genet. 1990; 37: 351-4.
5. Savendahl L, Davenport ML. Delayed diagnosis of Turner's syndrome: proponed guideline for change. J. Pediatr. 2000; 137: 455-9.
6. Partsch CJ, Raffenberg V, Sippell WG. Screening for Turner's syndrome by chromosome analysis of all girls with short stature. J. Pediatr. 2002; 140: 140-1.
7. Massa GG, Verlinde V, Heinrichs C. Screening for Turner's syndrome by chromosome analysis of all girls with short stature. J. Pediatr. 2002; 140: 141-2.
8. Lam WF, Hau WL, Lam TS. An evaluation of referrals for genetics investigation of short stature in Hong Kong. Chin Med. J. 2002; 115: 607-11.
9. Gicquel C, Gaston V, Cabrol S, Le Bouc Y. Assessment of Turner's syndrome by molecular analysis of the X chromosome in growth-retarded girls. J. Clin. Endocrinol. Metab. 1998; 83: 1472-6.
10. Temtamy SA, Ghali I, Salam MA, Hussein FH, Ezz EHAA, Salah N. Karyotype/phenotype correlation in females with short stature. Clin. Genet. 1992; 41: 147-51.
11. Saenger P, Albertsson Wikland K, Conway GS, Davenport M, Gravholt CH, Hintz R. Recommendations for the diagnosis and management of Turner syndrome. J. Clin. Endocrinol. Metab. 2001; 86: 3061-9.
12. Rochiccioli P, Battin J, Bertrand AM et al. Final height in Turner syndrome patients treated with growth hormone. Horm. Res. 1995; 44: 172-6.
13. Rosenfeld RG. Turner's syndrome: a growing concern. J. Pediatr. 2000; 137: 443-4.