Interstitial deletion 2q24.3: case report with high resolution banding.

Author:

Bernar J,Sparkes R S,Allensworth S

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference5 articles.

1. Kiar DL I lalhrecht 1. Partial mionosoniv of chromosome 2. Dclincable svndromne of dcletion 2 (q23q3 I). Anti (Genet (Paris) 1982: 25: l15t-8. - Fryns JP, Bosstractcn BV. Malbrain H. 'Vn dcn Berghc H. Interstitial deletion of long arm of chromosomc 2 in a polymalformed newborn-karyotypc: 46. XXdel(2)(q2 1q24);Shabtal, F.;Hun Geniet

2. Pairtial delction of chromosomc '. imiinmicking a phe notype of trisomv 18;J, McClellan G.Aasc;Hiumn PadtIol

3. SUMMARY An infant with mosaic trisomy 13, who was small for gestational age, became severely hypoglycaemic. For the first 19 days of life, glucose requirements to maintain normoglycaemia were high (up to 21-7 mg/kg/min) and at the same time the infant had high plasma insulin levels and low glucose insulin ratios. Treatment with hydrocortisone and susphrine was of questionable benefit. Hyperinsulinism abated by the third week of life. This case illustrates early remission of hyperinsulinaemic hypoglycaemia and raises the possibility

4. Receivcd for publication 3 August 1984. Accepted for publication 1(0,1984

5. This paper describes a mosaic trisomy 13 infant, small for gestational age, who developed hyperinsulinaemic hypoglycaemia

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