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  • Title: Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly.
    Author: Kulharya AS, Maberry M, Kukolich MK, Day DW, Schneider NR, Wilson GN, Tonk V.
    Journal: Am J Med Genet; 1995 Jan 16; 55(2):165-70. PubMed ID: 7717415.
    Abstract:
    We describe clinical and chromosomal findings in two patients with del(4q). Patient 1, with interstitial deletion (4)(q21.1q25), had craniofacial and skeletal anomalies and died at 8 months of hydrocephalus. Patient 2, with interstitial deletion (4)(q25q27), had craniofacial and skeletal anomalies with congenital hypotonia and developmental delay. These patients shared certain manifestations with other del(4q) patients but did not have Rieger anomaly. Clinical variability among patients with interstitial deletions of 4q may be related to variable expression, variable deletion, or imprinting of genes within the 4q region.
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