Interstitial deletion of the long arm of chromosome 1, del(1)(q21‐q25) in a profoundly retarded 8‐year‐old girl with multiple anomalies
- 1 October 1980
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 18 (4) , 305-313
- https://doi.org/10.1111/j.1399-0004.1980.tb00890.x
Abstract
An 8‐year‐old girl revealed the karyotype 46, XX,del(l)(q21 → q25). Both parents had normal chromosomes. The patient showed the following findings: underweight at birth, severe growth deficiency (at 7 9/12 years, length, weight and head circumference were at the levels of 24, 18 and 6 months, respectively), delayed bone age; bilateral cleft lip and cleft palate; a pattern of facial dysmorphic stigmata including a short, bulbous nose, exotropia, anisocoria, absence of some teeth, poorly modeled auricles; very small hands and feet with short fingers and toes, and broad thumbs and big toes exhibiting dysplastic, hyperconvex nails; in radiographs multiple phalangeal cone‐shaped epiphyses, bifid terminal phalanges of the thumbs and half‐moon shaped terminal phalanges of the big toes and absence of the 12th ribs. The patient suffered from seizures and from recurrent otitis and pyuria. Motor and mental development were profoundly delayed: at 8 years she was unable to sit up, had no speech and barely responded to her environment. As the proband and her parents were Fya/Fyb, location of the Duffy locus on segment 1q22 → 1q24 can be excluded.Keywords
This publication has 7 references indexed in Scilit:
- Deletion in the long arm of chromosome 1 from a subject with multiple congenital anomaliesCytogenetic and Genome Research, 1978
- Four further families informative for 1q and the Duffy blood groupCytogenetic and Genome Research, 1978
- Meiotic consequences of an intrachromosomal insertion of chromosome No. 1: a family pedigreeClinical Genetics, 1977
- Partial Deletion of 1q, Following a Pericentric Inversion, in a Boy with Multiple Minor Morphologic Anomalies and Mental RetardationActa geneticae medicae et gemellologiae, 1977
- Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1Clinical Genetics, 1976
- PRIMARY HYPOTHYROIDISM, GROWTH HORMONE DEFICIENCY AND CONGENITAL MALFORMATIONS IN A CHILD WITH THE KARYOTYPE 46, XY, del(l)(q25q32)Acta Paediatrica, 1976