Table 1

 Frequency of clinical features in the general SRS population compared to maternal UPD7 cases and to those with maternal duplication of 11p15 and available clinical data

SymptomFrequency (n = 143)*Mat UPD7 (n = 35)†Fisher 13Fisher 23SR46SR90
*Wollmann et al5; †for a review, see Hitchins et al1; ‡diagnosis of SRS was discussed; /, not reported; –, not present.
Partial karyotypesinv dup del(11)t(11;20)t(10;11)t(11;15)
Birth weight <3rd percentile94%97%++++
Short stature99%100%++++
Relative macrocephaly64%70%+
Triangular face79%62%+
Down slanting corners of the mouth46%0%+
Irregular teeth28%//+
Ear anomalies53%//++
Clinodactyly V68%56%++++
Brachydactyly V48%//++
Simian crease25%//(+)
Café au lait spots19%4%//
Psychomotor retardation37%38%++(+)
Muscular hypotrophy/tony45%/+
Squeaky voice22%//++
Early puberty8%+Too young
Precocious puberty5%Too young