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Table 3 Clinical findings associated with paternally-derived de novo reciprocal translocations involving SNRPN

From: Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

  Breakpoint in SNRPN Intron 2 Breakpoint in SNRPN Exon 20/ Intron 20 Breakpoint in SNRPN Intron 17
  Sun et al. 1996 Kuslich et al. 1999 Schulze et al. 1996 Conroy et al. 1997 Wirth et al. 2001 Present case
Karyotype designations 46, XY, t(15;19) (q12;q13.41) 46, XY, t(4;15) (q27;q11.2) 46, XY, t(9;15) (q21;q12–q13) 46, XY, t(2;15) (q37.2;q11.2) 46, X, t(X;15) (q28;q12) 46 XY, t(4;15)(q27;q11.2)
Age of examination 3.5 years 3 years 3 months 29 years 4.5 years 18 years 22 years
Major criteria (each scores one point) from [1] as revised in [2].
1. Neonatal central hypotonia Floppy and lethargic in the first 6 months with poor suck (1pt.) Hypotonicity, poor sucking reflex during infancy (1pt.) Neonatal hypotonia (weak cry, poor suck) (1 pt.) Neonatal hypotonia, lethargy, poor suck (1 pt.) - Reduced tone with poor head control, poor suck (1 pt.)
2. Infantile feeding problems/ failure to thrive   Failure to thrive (1pt.) Feeding problems in infancy, failure to thrive (1 pt.) Special feeding techniques, but no failure to thrive - Feeding problems, but no failure to thrive (1pt.)
3. Rapid weight gain between 1–6 years Obesity starting at 6 months, hyperphagia (1 pt.) Eating behavior leading to increased weight gain at age 2 yr (1 pt.) Periodic excessive weight gain from age 7 yr Onset of obesity at 1.5–2 yr with excessive appetite and food foraging (1 pt.) Obesity began at 4–5 yr with hyperphagia and food foraging (1 pt.) Late onset obesity (at approx. 8 yr)
4. Characteristic facial features Narrow bifrontal diameter, almond-shaped eyes, down-turned mouth (1pt.) Narrow bifrontal diameter, almond-shaped eyes, upslanted palpebral fissures (1 pt.) Narrow bifrontal diameter, narrow face, small mouth, poor facial mimic (1pt.) Narrow bifrontal diameter, squared nasal tip, downturned mouth (1 pt.) - -
5. Hypogonadism: genital hypoplasia, pubertal deficiency Undescended testes (1 pt.) Undescended small testes, hypogonadism (1 pt.) Hypoplastic genitalia, incomplete gonadal maturation with delayed pubertal signs after age 16 yr (1 pt.) Scrotum normal, penile length at 10th %ile Primary amenorrhea, hypoplastic uterus (1 pt.) Undescended small testes, hypogonadism, delayed pubertal signs (1 pt.)
6. Mental retardation, developmental delay Developmental delay (1 pt.) Developmental delay (1 pt.) Mental retardation, developmental delay/ learning problems (1 pt.) Developmental delay, special school setting (1 pt.) Slight developmental delay, school for mentally retarded children (1 pt.) Developmental delay, special school setting (1 pt.)
Score 5 points 6 points 5 points 4 points 3 points 4 points
  1. Blank cell = no information
  2. - = absent