Patients with paternally-derived interstitial duplications or triplications of chromosome 15q11-q13 with an abnormal phenotype reported in the literature
 |
| |||
Patients with paternally-derived interstitial duplications or triplications of chromosome 15q11-q13 with an abnormal phenotype reported in the literature
| Study | Rearrangement | Sex | Age | Clinical characteristics |
|---|---|---|---|---|
| Mohandas et al., 1999 (39) | duplication (at least BP2-BP3) | M | 2 y, 4 mo | developmental delay, absent speech, partial agenesis of the corpus callosum and heterotopic gray matter in the right hemisphere; no dysmorphic features |
| Engelen et al., 1999 (38) | duplication (at least BP2-BP3) | M | 12 y | features similar to Prader-Willi syndrome, including developmental delay, obesity starting during the first year of life, mild mental retardation, excessive eating, skin picking, minor dysmorphic features (high forehead, upslanting palpebral fissures), myopia, and small hands |
| Mao et al., 2000 (40) | duplication (at least BP2-BP3) | M | 16 y | developmental and speech delay, behavioral problems (mood liability, social immaturity), uncontrolled appetite, food stealing, self-injurious behavior, depression and anxiety, low average IQ, short stature, obesity, no dysmorphic features |
| Roberts et al., 2002, Bolton et al., 2004, Veltman et al., 2005 (37, 53, 54) | duplication BP1-BP3 | F | 5 y | proband: motor and speech delay delay, PDD-NOS, borderline mental retardation, clumsy and uncoordinated, stiff gait, mild hypotonia, joint laxity, slight down-slanting palpebral fissures |
| duplication BP1-BP3 | F | 8 y | older sister: language and speech delay, developmental motor coordination disorder, oppositional defiant behavior, encopresis, autistic behavior when younger but no ASD at 8 y, low average IQ; clumsy, mild hypotonia, joint laxity* | |
| Smith et al., 2004 (41) | duplication BP2-BP3 | F | 17 y | hypotonia, development and speech delay, autism, dyscalculia, short stature, minimal dysmorphism and motor coordination problems; normal IQ |
| Cassidy et al., 1996 (42) | triplication BP2-BP3 (BP1-2 not studied) (BP3-4 normal) | F | 6 y | neonatal hypotonia, difficulty feeding, motor and speech delay (words 2.5 y, phrases 6 y), violent and repetitive behavior, high pain tolerance, short stature, wide mouth, normal neurological exam |
| Ungaro et al., 2001 (43) | triplication BP1-BP4 | F | 12 y | features similar to Prader-Willi syndrome, including mild mental retardation, cleft palate, obesity, compulsive eating, small hands and feet, and short stature |
All rearrangements included the Prader-Willi syndrome/Angelman syndrome critical region. All duplications/triplications were characterized molecularly and parental transmission was assessed with methylation studies, except Engelen et al. (38) who determined parental origin based on cytogenetic polymorphisms, and Smith et al. (41), who used microsatellite analysis. In addition, Engelen et al. (38) observed the duplication with FISH but microsatellite analysis showed no duplication and the methylation pattern was normal, thus making this case questionable.