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Partial trisomy 1q with growth hormone deficiency and normal intelligence

✍ Scribed by Schorry, E.K.; Dietrich, K.N.; Saal, H.M.; Blough, R.I.; Dey, S.; Chernausek, S.; Milatovich-Cherry, A.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 20 KB
Volume: 77
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980526)77:4<257::aid-ajmg1>3.0.co;2-k

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✦ Synopsis

We present two sibs with partial trisomy 1 (q31.1-q32.1) due to a familial insertion. Patient 1 is a girl who presented at age 9 months with minor anomalies, short stature, and normal psychomotor development. K a r y o t y p e w a s 4 6 , X X , d e r ( 4 ) i n s ( 4 ; 1 ) (p14;q31.1q32.1)pat. The father had a balanced inverted insertion of 1q into 4p, with karyotype 46,XY,ins(4;1)(p14;q31.1q32.1). At age 5 years, patient 1 was found to have short stature with documented growth hormone deficiency and ectopic pituitary. Her growth velocity responded well to treatment with growth hormone. Cognitive testing at 5 9/12 years showed normal intelligence with an IQ of 90. Patient 2, the brother of patient 1, presented with intrauterine growth retardation. He has the same chromosomal insertion as his sister, with partial trisomy 1q. We suggest that there is a recognizable phenotype of trisomy 1(q31.1-q32.1) which includes prenatal and postnatal growth retardation, narrow palpebral fissures, microphthalmia, microstomia, pituitary abnormalities, and normal intelligence in some individuals. Am.

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