Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?

Abstract

The deletion of the long arm of chromosome 4 is rare, presenting with a variable phenotype depending on the chromosomic area affected. A term newborn with prenatal diagnosis of anhydramnios, dysplastic cystic kidneys, and cardiomegaly was born with generalized subcutaneous edema, several dysmorphic features, and progressive renal failure requiring dialysis. The infant continued to deteriorate and died at 52 days of age. Autopsy confirmed bilateral renal dysplasia with cysts. Array-comparative genomic hybridization (CGH) identified a large deletion on 4q25-q28.3, which is not yet described in association with renal disease. The clinical progression could be expected due to the severity of the perinatal clinical presentation.

Keywords

chromosome 4q deletion - craniofacial malformations - renal dysplasia

• References

• 1 Strehle EM, Yu L, Rosenfeld JA. et al. Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. Am J Med Genet A 2012; 158A [phone]
• 2 Mitchell JA, Packman S, Loughman WD. et al. Deletions of different segments of the long arm of chromosome 4. Am J Med Genet 1981; 8 (01) 73-89
• 3 Lin AE, Garver KL, Diggans G. et al. Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes. Am J Med Genet 1988; 31 (03) 533-548
• 4 Kulharya AS, Maberry M, Kukolich MK. et al. Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly. Am J Med Genet 1995; 55 (02) 165-170
• 5 Strehle EM, Ahmed OA, Hameed M, Russell A. The 4q-syndrome. Genet Couns 2001; 12 (04) 327-339
• 6 Strehle EM, Bantock HM. The phenotype of patients with 4q-syndrome. Genet Couns 2003; 14 (02) 195-205
• 7 Lines MA, Kozlowski K, Kulak SC. et al. Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci 2004; 45 (03) 828-833
• 8 Becker SA, Popp S, Rager K, Jauch A. A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature. Eur J Pediatr 2003; 162 (04) 267-270
• 9 Fryns JP, Van den Berghe H. Rieger syndrome and interstitial 4q26 deletion. Genet Couns 1992; 3 (03) 153-154
• 10 Motegi T, Nakamura K, Terakawa T. Deletion of a single chromosome band 4q26 in a malformed girl; exclusion of Rieger syndrome associated gene(s) from the 4q26 segment. J Med Genet 1988; 25 (09) 628-633
• 11 Vaux C, Sheffield L, Keith CG, Voullaire L. Evidence that Rieger syndrome maps to 4q25 or 4q27. J Med Genet 1992; 29 (04) 256-258
• 12 Chudley AE, Verma MR, Ray M, Riordan D. Interstitial deletion of the long arm of chromosome 4. Am J Med Genet 1988; 31 (03) 549-551
• 13 Raczenbek C, Krassikoff N, Cosper P. Second case report of del (4)(q25q27) and review of the literature. Clin Genet 1991; 39 (06) 463-466
• 14 Kulharya AS, Maberry M, Kubolich MK. et al. Interstitial deletion 4q21.1, 4q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly. Am J Med Genet 1995; 55 (02) 165-170
• 15 Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man. Second Revised and Expanded Edition. New York, NY: Walter de Gruyter; 2001
• 16 Ligutic I, Brecevic L, Petrovic I, Kalogjera T, Rajic Z. Interstitial deletion 4q and Rieger syndrome. Clin Genet 1981; 20 (05) 323-327
• 17 Moreira L, Schinzel A, Baumer A. et al. Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1). Am J Med Genet A 2010; 152A [phone]
• 18 Rose NC, Schneider A, McDonald-McGinn DM, Caserta C, Emanuel BS, Zackai EH. Interstitial deletion of 4(q21q25) in a liveborn male. Am J Med Genet 1991; 40 (01) 77-79
• 19 Sakazume S, Kido Y, Murakami N, Matsubara T, Numabe H. Additional patients with 4q deletion: severe growth delay and polycystic kidney disease associated with 4q21q22 loss. Pediatr Int 2015; 57 (05) 880-883