From: Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder
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 |