Table 2 |
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|
Clinical features of the patients with deletions including cytogenetic band 15q1 4 |
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|
PATIENT |
SIZE AND POSITION OF CHROMOSOME 15 DELETION |
ADDITIONAL CHROMOSOME ABERRATION |
SEX |
CLEFT PALATE |
HEART DEFECT |
DEVELOPMENTAL DELAY |
FACIES ANOMALIES |
ADDITIONAL ABNORMALITIES |
|
|
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|
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 |
|
|
||||||||
|
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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|
Roberti et al. Orphanet Journal of Rare Diseases 2011 6:17 doi:10.1186/1750-1172-6-17 |
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