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

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 10^th %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