01q311

1q31.1

Publication Details

  • Schorry E K, Dietrich K N, Saal H M, Blough R I, Dey S, Chernausek S, Milatovich-Cherry A.: Partial trisomy 1q with growth hormone deficiency and normal intelligence. AJMG 77:257-260, 1998. [PubMed: 9600731]
    Patient 1, and her younger brother, Patient 2:
    46,XY, inv ins(4;1)(p14;q31.1q32.1).,46,XX and XY,der(4)inv ins(4;1)(p14;q31.1q32.1)pat.
    The proband presented at age 9 months with minor anomalies, short stature, and normal psychomotor development. At age of 5 years, she was found to be growth hormone deficient and responded well to treatment. The suggested phenotype of 1q trisomy syndrome includes prenatal and postnatal growth retardation, narrow palpebral fissures, microphthalmia, microstomia, pituitary abnormalities, and normal intelligence in some individuals.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 1q+
    Index Terms: Growth hormone deficiency