Table 5

Summary of reported population studies to assess the frequency of chromosome abnormalities (excluding fragile sites, polymorphisms and single cell abnormalities)

Study

Subjects karyotyped

Chromosome abnormality

Clinical diagnosis


Konstantareas & Homatidis 1999 [123]

127

6 [4.7%]

Diagnosed using the clinical criteria of autistic disorder by DSM-III (1983–1989)

46,XY,inv(2)(p11q13)pat,3q+

47,XY,+mar

47,XY,+mar

47,XX,+13

47,XX,+inv dup(15)(pter→ q13::q13→ pter)

47,XY,+der(15)(pter→ q15::p11→ pter)de novo

Gillberg & Wahlstrom 1985 [124]

46

2 [4.3%]

Diagnosed using the American Psychiatric Association (1980) criteria DSM-III

47,XY,+21

47,XYY

Lauritsen 1999 [122]

145

4 [2.8%]

Cases with psychotic symptoms before 2–3 years or beginning at 2–3 or later between 1969–1993

47,XX,+mar,?t(13;22)

46,XX,t(9;10)(p23;q23.1)

46,XY,inv(10)(p11.21;q21.2)mat

46,XY,t(7;12)(q21.4;q15)de novo

Li 1993 [121]

104

5 [4.8%]

Diagnosed using the American Psychiatric Association (1980 & 1987) guidelines, DSM-III & III-R

47,XY,+21

46,XY/47,XY,+21 [12/88]

46,XY,t(5;6)(q13;p23)de novo

46,X,inv(Y)(p11q11)

46,fra(X)(q27.3),inv(Y)(p11q11)

Weidmer-Mikhail 1998 [120]

59

1 [1.69 %]

DSM-III-R (1991–1995)

Tetrasomy 15

Ritvo 1990 [6]

233

9 [3.9%]

DSM-III (1984–1988)

6-trisomy 21

Partial trisomy 8

Deletion 9p

46,XX,t(5q;11q)pat

Wassink 2001 [119]

278

13 [4.7 %]

DSM-III,-III-R & -IV (1980–1999)

46,XX,del(8)(p23)

MR, diaphragmatic hernia, hemivertebra, 2-vessel umbilicus, strabismus

47,XX,der(14)t(14;?)(q22;?)

MR, abnormal facies & palate, failure to thrive

46,XX,dup(15)(q11.2;q13)

MR, abnormal EEG, precocious puberty

2–46,XY,del(15)(q11.2q13)

Mild MR Moderate MR & Seizures

mat47,XX,+mar de novo 47,XX,+mar

McCune-Albright syndrome Microcephaly, abnormal facies

47,XY,+del(15)(q22)

MR

46,XY,del(16)(q13q22)

MR, Seizures, failure to thrive, abnormal facies, webbed neck macrocephaly, syndactyly

46,XY,add(17)(q23)

MR & abnormal facies

2–47,XX,+21

MR, heart murmur, esotropia, recurrent pneumonia. MR1VSD, pneumonia and seizures

46,XY,add(22)(q13)

Macrocephaly and failure to thrive

Present

421

14 [3.3%]

Physician referrals to a genetic lab. 1995–2003 March


Reddy BMC Medical Genetics 2005 6:3   doi:10.1186/1471-2350-6-3

Open Data