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Table 2 Clinical features of the patients with deletions including cytogenetic band 15q1 4

From: Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

PATIENT SIZE AND POSITION OF CHROMOSOME 15 DELETION ADDITIONAL CHROMOSOME ABERRATION SEX CLEFT PALATE HEART DEFECT DEVELOPMENTAL DELAY FACIES ANOMALIES ADDITIONAL ABNORMALITIES
Present case del(15)(q14) (submicroscopic, 1,6 Mb) t(1;13)(p31.1;q13),t(3;19)(p23;p12), t(9;15)(p23;q14),t(14;18)(q22;p11.23) M + - + + -
Chen et al., 2008 del(15)(q14) (submicroscopic, 5,6 Mb) - M + VSD + + Epilepsy; speech and language disorder
Brunetti-Pierri et al., 2008 case 1 del(15)(q14) (submicroscopic, 4,2 Mb) - M + (Bifid uvula) + + + Bilateral inguinal hernias, autistic spectrum behavior
Brunetti-Pierri et al., 2008 case 2 del(15)(q13-q14) (submicroscopic, 8,9 Mb) - F - + + + Hypotonia,feeding difficulties
Erdogan et al., 2007 del(15)(q14) (submicroscopic, 5,3 Mb) - F + ASD + + Low-set ears, OFC 3rd percentile
Galan et al., 1991 del(15)(q12-q14) - M + (Bifid uvula) Pulmonary valve stenosis + + Right cryptorchidism, hearing deficency
Tonk et al., 1995 del(15)(q12-q14) - M + VSD, PDA, ischemic cardiomyopathy + + Large fontanelles, hearing deficency
Autio et al., 1988 del(15)(q13-q15) - M + ASD + + Cryptorchidism, kidney defect, corpus callosum agenesis
Herva and Vuorinen, 1980 del(15)(q12-q14) Mosaic with 46, XY M - VSD, hypoplastic pulmonary artery, atretic tricuspid valve Died at 7 days + Cryptorchidism
Pauli et al., 1983 del(15)(pter-q15) del(11)(q25-qter) M + (Bifid uvula) VSD + + Cryptorchidism, unilateral renal ptosis
Windpassinger et al., 2003 del(15)(pter-q14) del(3)(qter) M - Persistent foramen ovale, PDA + + Cryptorchidism, clubfeet, strabismus
Kucerova et al., 1979 del(15)(pter-q15) del(3)(pter-p25) M - - + + Cryptorchidism
Duckett and Roberts, 1981 del(15)(pter-q14or15) Trisomy 13(pter-q32 or 33) F + (Bifid uvula) VSD, ASD, PDA, transposition of great vessels Died at 14 hr + Microphthalmia, tracheo-oesophageal fistula
Ming et al., 1977 del(15)(pter-q21) del(6)(q27-qter) F + - Died at 3 days + Microphthalmia
Schwartz et al., 1985 del(15)(pter-q14) del(22)(pter-q13.2) M - Coarctation of aorta, PDA + + Cleft alveolar ridge, hydronephrosis
Matsumura et al., 2003 del(15)(pter-q14) Trisomy 22q M - PDA + + Renal failure, cryptorchidism
  1. Legend: M: male; F: female; VSD: ventricular septal defect; ASD: atrial septal defect; PDA: patent ductus arteriosus; OFC: occipito-frontal headcircumference.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172