Reported cases with monosomy for chromosome band 1p36
| Reference | Case | Age* | Age† | Presenting feature(s) | Karyotype | Survival |
|---|---|---|---|---|---|---|
| Magenis et al 1 | 1 | Newborn | Multiple congenital anomalies | del(1)(p36.13) | ||
| Wargowski et al 2 | 1–4 | del(1)(p36) | ||||
| Wexleret al 3 | 1 | 3 y 7 mth | Dysmorphism; seizures; microcephaly | 46,XX,del(1)(p36.3) | Alive | |
| 2 | 10 mth | Hypotonia; nystagmus; shawl scrotum | 46,XY,del(1)(p36.31) | Alive | ||
| Keppler-Noreuilet al 4 | 1 | 3 wk | 2 y | Congestive cardiac failure | 46,XX,del(1)(p36.22) | Alive |
| 2 | Newborn | 8 mth | IUGR; dysmorphism | 46,XX,del(1)(p36.22) | Alive | |
| 3 | 12 mth | 20 mth | Neonatal seizures; developmental delay | 46,XX,del(1)(p36.22) | Alive | |
| Reish et al 5 6 | 3 | 47 y | Developmental delay; seizures | 46,XX,del(1)(p36.32) | Alive | |
| Sandlinet al 7 | 1 | del(1)(p36.2) | ||||
| 2 | del(1)(p36.3) | |||||
| 3 | del(1)(p36.3) | |||||
| Giraudeauet al 8 | 1 | 16 y | Dysmorphism; seizures; scoliosis; MR | 46,XY,del(1)(p36.3) | Alive | |
| Shapira et al 9 | 1 | 11 y 3 mth | 15 y 4 mth | Developmental delay; dysmorphism | 46,XY,del(1)(p36.22) | Alive |
| 2 | 10 y 9 mth | 13 y 6 mth | Developmental delay; dysmorphism | 46,XX,del(1)(p36.2) | Alive | |
| 3 | 4 y 10 mth | 12 y 11 mth | Developmental delay; dysmorphism | 46,XY,del(1)(p36.2) | Alive | |
| 4 | 5 y 11 mth | 9 y 4 mth | Possible Prader-Willi syndrome | 46,XX,del(1)(p36.31) | Alive | |
| 5 | 2 y 9 mth | 6 y 2 mth | Seizures; developmental delay | 46,XY,del(1)(p36.23) | Alive | |
| 6 | 2 y 9 mth | 4 y 8 mth | Developmental delay; growth delay | 46,XX,del(1)(p36.2) | Alive | |
| 7 | 2 y 2 mth | 4 y 1 mth | Developmental delay | 46,XY,del(1)(p36.2) | Alive | |
| 8 | Prenatal (21 wk) | 1 y 5 mth | Abnormal maternal serum AFP | 46,XX,del(1)(p36.22) | Alive | |
| 9 | 2 wk | 1 y 3 mth | Seizures | 46,XX,del(1)(p36.2) | Alive | |
| 10 | 4 d | 1 y 2 mth | Dysmorphism | 46,XY,del(1)(p36.2) | Alive | |
| 11 | 10 y 1 mth | 11 y 1 mth | Developmental delay; dysmorphism | 46,XX,del(1)(p36.22) | Alive | |
| 12 | 4 d | 11 mth | Multiple congenital anomalies | 46,XY,del(1)(p36.2) | Alive | |
| 14 | 6 mth | 1 y 5 mth | Multiple congenital anomalies | 46,XX,del(1)(p36.2) | Alive | |
| Slavotineket al 10 | 1 | Newborn | 6 y | Dysmorphism; congenital anomalies | 46,XX,del(1)(p36.2) | Alive |
| Riegel et al 11 | 1 | Newborn | 4 y | Hypotonia; developmental delay | 46,XX,del(1)(p36.3) | Alive |
| Faivreet al 12 | 1 | Prenatal (24 wk) | Prenatal (28 wk) | Abnormal antenatal scan | 46,XY,del(1)(p36) | D prenatal (28 wk) |
| Eugsteret al 13 | 1 | 4.5 y | Hyperphagia; obesity | mos46,XX,del(1)(p36.33) | Alive | |
| Howard and Porteous14 | 1 | Newborn | 2 mth | Dysmorphism; congenital heart disease | 46,XY,del(1)(p34.1p36.1) | D 2 mth |
| Biegelet al 15 | 1 | Newborn | 5 mth | Developmental delay; dysmorphism | 46,XX,del(1)(p36.1-p36.2) | Alive |
| Hainet al 16 | 1 | Newborn | Newborn | Dysmorphism | 45,XX,-1,-15,+der(1)(1;15) (p36;q11) | D 6 d |
| 2 | Newborn | Newborn | Dysmorphism | 45,XY,-1,-15,+der(1)(1;15) (p36;q11) | D 2 d | |
| Yunis et al 17 | 1 | 4 y | 4 y | Developmental delay | 45,XX,ter rea (1;21) (p36;q13) | Alive |
| Barbiet al 18 | 1 | Newborn | 15 mth | Hypotonia; minor anomalies | 46,XX,-1,+der(1)t(1;15) (p36;p11.2) | Alive |
| Blennowet al 19 | 1 | 10 mth | 3.5 y | Seizures | 46,XX,-1,+der(1)t(1;15) | Alive |
| (p36.31-33;p11.2-12) |
Age* = age at diagnosis.
Age† = age at time of reporting.
IUGR = intrauterine growth retardation; MR = mental retardation; AFP = alphafetoprotein; D = dead.