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Direct duplication of chromosome 1, dir dup(1)(p21.2----p32) in a Bedouin boy with multiple congenital anomalies.
Am J Med Genet. 1989 Mar; 32(3):353-5.AJ

Abstract

Here we describe a Bedouin boy with a de novo duplication of 1p and multiple congenital anomalies. He had microcephaly, convergent squint, anteverted nostrils, malformed ears, micrognathia, hypoplasia of the terminal phalanges, clinodactyly of 5th fingers, simian creases, left inguinal hernia, cryptorchidism, and severe postnatal growth retardation. Our clinical findings are compared with those of previous reports of duplication involving chromosome 1p.

Authors+Show Affiliations

Mohammed FM
Kuwait Medical Genetics Centre, Maternity Hospital.
Farag TI
No affiliation info available
Gunawardana SS
No affiliation info available
al-Digashim DD
No affiliation info available
al-Awadi SA
No affiliation info available
al-Othman SA
No affiliation info available
Sundareshan TS
No affiliation info available

MeSH

Abnormalities, MultipleChromosome AberrationsChromosome BandingChromosome DisordersChromosomes, Human, Pair 1ConsanguinityHumansInfantKaryotypingLymphocytesMale

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2729356

Citation

Mohammed, F M., et al. "Direct Duplication of Chromosome 1, Dir Dup(1)(p21.2----p32) in a Bedouin Boy With Multiple Congenital Anomalies." American Journal of Medical Genetics, vol. 32, no. 3, 1989, pp. 353-5.
Mohammed FM, Farag TI, Gunawardana SS, et al. Direct duplication of chromosome 1, dir dup(1)(p21.2----p32) in a Bedouin boy with multiple congenital anomalies. Am J Med Genet. 1989;32(3):353-5.
Mohammed, F. M., Farag, T. I., Gunawardana, S. S., al-Digashim, D. D., al-Awadi, S. A., al-Othman, S. A., & Sundareshan, T. S. (1989). Direct duplication of chromosome 1, dir dup(1)(p21.2----p32) in a Bedouin boy with multiple congenital anomalies. American Journal of Medical Genetics, 32(3), 353-5.
Mohammed FM, et al. Direct Duplication of Chromosome 1, Dir Dup(1)(p21.2----p32) in a Bedouin Boy With Multiple Congenital Anomalies. Am J Med Genet. 1989;32(3):353-5. PubMed PMID: 2729356.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Direct duplication of chromosome 1, dir dup(1)(p21.2----p32) in a Bedouin boy with multiple congenital anomalies. AU - Mohammed,F M, AU - Farag,T I, AU - Gunawardana,S S, AU - al-Digashim,D D, AU - al-Awadi,S A, AU - al-Othman,S A, AU - Sundareshan,T S, PY - 1989/3/1/pubmed PY - 1989/3/1/medline PY - 1989/3/1/entrez SP - 353 EP - 5 JF - American journal of medical genetics JO - Am J Med Genet VL - 32 IS - 3 N2 - Here we describe a Bedouin boy with a de novo duplication of 1p and multiple congenital anomalies. He had microcephaly, convergent squint, anteverted nostrils, malformed ears, micrognathia, hypoplasia of the terminal phalanges, clinodactyly of 5th fingers, simian creases, left inguinal hernia, cryptorchidism, and severe postnatal growth retardation. Our clinical findings are compared with those of previous reports of duplication involving chromosome 1p. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2729356/Direct_duplication_of_chromosome_1_dir_dup_1__p21_2____p32__in_a_Bedouin_boy_with_multiple_congenital_anomalies_ DB - PRIME DP - Unbound Medicine ER -