González MS, González GN, Tasé VD, Suárez MU, Calixto RY

Language: Spanish
References: 9
Page: 55-58
PDF size: 334.87 Kb.

ABSTRACT

The 4q chromosome deletion syndrome presents a wide range of clinical manifestations in phenotype, showing an estimated impact equal to 1:100 000 and 28 % mortality. The severity of malformations varies widely and depends of the deletion site size and position in the chromosome. The objective of this work is to describe the cytogenetic finding of an 11 years old boy with severe clinical manifestations. The sample was received from the clinical genetics consulting service of the Juán Manuel Márquez Hospital in Havana. The karyotype in peripheral blood was carried out by means of the lymphocytes culture technique and GTG banding following the standardized techniques applied in the Cytogenetics Laboratory of the National Center for Medical Genetics in Cuba. The 15 metaphases analyzed showed a male karyotype with a terminal deletion in the long branch of chromosome 4, corresponding to the chromosomal formula 46, XY, del (4) (q34→qter) according to the International System of Cytogenetic Nomenclature 2013. The cytogenetic study showed it to be particularly interesting for the detection of a rare chromosomal syndrome.

REFERENCES

1. Lantigua A. Introducción a la Genética Médica. La Habana: Editorial Ciencias Médicas; 2006.

2. Xu W, Ahmad A, Dagenais S, Iyer RK, Innis JW. Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3. Am J Med Genet A. 2012 Mar;158ª (3):635–640.

3. Rossi MR, DiMaio MS, Xiang B, Lu K, Kaymakcalan H, Seashore M, et al. Clinical and Genomic Characterization of Distal Duplications and Deletions of Chromosome 4q: Study of Two Cases and Review of the Literature. Am J Med Genet A. 2009;149A(12):2788-2794.

4. de León N, Soriano MT, Cabrera MJ, Benítez DR. Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3). Case Reports in Genetics. 2012. Article ID 321569.

5. Strehle E-M, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen T-J, Martinez JE, et al. Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region. Am J Med Genet Part A. 2012;158A:2139–2151.

6. Kuldeep CM, Khare AK, Garg A, Mittal A, Gupta L. Terminal 4q Deletion Syndrome. Indian J Dermatol. 2012;57(3):4-222.

7. Lall M, Puri R, Pushpa S, Verma I. A familial deletion 4q syndrome: An outcome of a paracentric inversion. Indian J Hum Genet. 2012; 18(2): 238–240.

8. Utine GE, Aktaş D. Mosaicism for terminal deletion of 4q. Genetic Counselin. 2006;17(2):205-209.

9. Vogt J, Ryan E, Tischkowitz MD, Reardon W, Brueton LA. The tale of a nail sign in chromosome 4q34 deletion syndrome. Clin Dysmorphol. 2006 Jul;15(3):127-32.