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. 1991 Jan;38(1):74-9.
doi: 10.1002/ajmg.1320380117.

An Infant With Deletion of the Distal Long Arm of Chromosome 15 (q26.1----qter) and Loss of Insulin-Like Growth Factor 1 Receptor Gene

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Free PMC article

An Infant With Deletion of the Distal Long Arm of Chromosome 15 (q26.1----qter) and Loss of Insulin-Like Growth Factor 1 Receptor Gene

E W Roback et al. Am J Med Genet. .
Free PMC article

Abstract

We report on an infant with a previously undescribed chromosome 15 deletion (q26.1----qter) and compare the clinical findings with those of 7 reported patients with deletions of distal 15q, as well as ring chromosome 15 syndrome patients. Most of the patients with deletions of distal 15q, including our patient, have intrauterine growth retardation (IUGR), microcephaly, abnormal face and ears, micrognathia, highly arched palate, renal abnormalities, lung hypoplasia, failure to thrive, and developmental delay/mental retardation. Several genes have been assigned to the 15q25----qter region, including insulin-like growth factor 1 receptor (IGF1R). DNA analysis from our patient documented the loss of one IGF1R gene copy. Our study further localizes the IGF1R gene distal to the 15q26.1 band. It is interesting to speculate that the severe IUGR and postnatal growth deficiency of our patient and other patients with similar chromosome 15 deletions are related to the loss of an IGF1R gene copy which may lead to an abnormal number and/or structure of the receptors.

Figures

Fig. 1
Fig. 1
Several views of our patient at one week of age showing full body, facial appearance, and hands and feet.
Fig. 2
Fig. 2
A prometaphase chromosome 15 (850 band level) idiogram [Harnden and Klinger, 1985] and representative metaphase and prometaphase chromosome 15s are shown. The chromosome with 15q26.1→qter deletion is on the left of each chromosome pair.
Fig. 3
Fig. 3
GTG-banded chromosome 15s from the mother, father, and child. Chromosome C was identified in the father and recognized as the deletion in the child by satellite size and stalk length polymorphisms.
Fig. 4
Fig. 4
Southern blot autoradiogram of HindIII digests of lymphoblastoid DNA from the mother, father, and proposita with the 15q26.1→qter deletion detected by two probes [IGF1R and SGNE-1(7B2)], both localized to different regions of chromosome 15. The intensity of the IGF1R band is approximately one-half that of the SGNE-1 (7B2) band in the proposita, which indicates that an IGF1R gene copy is missing.

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