Herein, we report on the second case of contiguous gene syndrome(CGS) due to a very small de novo interstitial deletion in 8p11.2, in a patient with Kallmann syndrome and spherocytosis. A third case, described by Dodè et al(2003) showed Kallmann syndrome but not spherocytosis.The patient, a 12-year-old boy, presented with congenital spherocytosis, genitourinary anomalies, dysmorphic facial features, anomalies of teeth position , anosmia, abnormal fingers and left foot, growth, speech and mild mental retardation.The deletion is very similar to that previously described by Vermeulen et al.(2002), although in our patient it spans a more telomeric region. The clinical features of the two patients are overlapping except for mental retardation, which is present only in the hitherto described boy and not in the patient described by Vermeulen et al.
New case of contiguous gene syndrome at chromosome 8p11.2p12
AL Nucaro
2005
Abstract
Herein, we report on the second case of contiguous gene syndrome(CGS) due to a very small de novo interstitial deletion in 8p11.2, in a patient with Kallmann syndrome and spherocytosis. A third case, described by Dodè et al(2003) showed Kallmann syndrome but not spherocytosis.The patient, a 12-year-old boy, presented with congenital spherocytosis, genitourinary anomalies, dysmorphic facial features, anomalies of teeth position , anosmia, abnormal fingers and left foot, growth, speech and mild mental retardation.The deletion is very similar to that previously described by Vermeulen et al.(2002), although in our patient it spans a more telomeric region. The clinical features of the two patients are overlapping except for mental retardation, which is present only in the hitherto described boy and not in the patient described by Vermeulen et al.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
