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Table 5 Summary of reported population studies to assess the frequency of chromosome abnormalities (excluding fragile sites, polymorphisms and single cell abnormalities)

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