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