Table 1 Cases of interstitial duplications in chromosome region 6q21-6q23
Cytogenetic results | Molecular testing | Minimal duplication region according to molecular tests | Molecular breakpointsain GRCh37/hg19 | Phenotype of the proband | |
|---|---|---|---|---|---|
Temple et al. 1996 | 46,XX, der(2) ins(2;6)(2pter-2p22.2::6q?22.32- ?6q?23.1::2p22.2–2qter)patb | Markers analysis | dup(6)(q23.3q24.1) (between markers D6S292 and D6S308) | chr6: 136315214-141256931 | small at birth, neonatal diabetes, microcephaly, myoclonic seizures, no DD (the insertion is resulting in partial trisomy: dup(6)(6q22.33–q23.3)) |
Arthur et al. 1997 | 46,XX, inv dup(6)(q22q23)pat | Markers analysis | invdup(6) (q23.2q24.1) (between markers D6S270 and D6S310 | chr6: 134654821- 142102601 | transient neonatal diabetes mellitus, minor dysmorphic features |
Henegariu et al.1997 | 46,XX,dir dup(6) (q23.3q25.3)c | FISH with painting probe for chr6 | ukn | ukn | dolichocephaly, dyspmorphic features, long fingers, bilateral single palmar creases, contractures at the wrists, long fingers, dorsiflexion of the first toes, mild syndactyly of toes 2–3, bradycardia, mild tricuspid insufficiency, a small patent ductus arteriosus, and small atrial septal defect, moderate cardiomegaly, short neck but not webbed, umbilical hernia, and mild generalized hypertonia |
Pratt et al. 1998 (2 cases) | Case 1: 46,XY,dup(6)(q21q23.3)dn Case 2: 46,XX,dup(6)(q21.15q23.3)dn | FISH with painting probe for chr6 | ukn | ukn | Case 1: dysmorphic features, bilateral clubfoot, ulnar deviation of hands, decreased muscle tone, decreased subcutaneous fat, brain anomalies, a thickened tricuspid valve, bilateral transverse palmar creases, ulnar deviation of the hands, club feet, and small hands and feet Case 2: DD/ID (IQ 63), attention deficit disorder with hyperactivity, and coördination difficulties. Dysmorphic features, ventricular septal defect and pulmonic valvular stenosis, clinodactyly of the 5th finger, and thickened nails of the 5th toes, increased reflexes and ankle clonus. |
Zneimer et al. 1998 | 46,XX,dup(6)(q21q23)dn | FISH with painting probe for chr6 | ukn Possibly dup(6)(q22q24) ivm neonatal diabetes mellitusd | ukn | born with umbilical hernia and transient insulin dependent diabetes until 7 months, delayed development and speech (receives speech therapy), dysmorphic features, cardiomegaly of unknown etiology |
Goh et al. 2000 | der(7)ins(7;6)(q21.11;q22.1q23.3)mat resulting in partial trisomy of 6q22.1q23.3 | N.D. | ukn | ukn | Case 1: obesity, brachycephaly, dysmorphic features, bilateral clinodactyly, DD, ID with IQ of 50.8, obstructive sleep apnoea Case 2: (older sister of case 1) brachycephaly, dysmorphic features, bilateral clinodactyly, mild DD, no formal IQ test, but left school without academic credits. |
Causio et al. 2001 | 46, XY, dup(6)(q23q23)dn | FISH with YAC probes | dup(6)(q23.2q24.1) according to minimal duplication breakpoints using YAC probes (970A12-949D3) | chr6: 132138813-142077202 | plagiocephaly, DD, ID, hiatus hernia (corrected surgically), acrocephaly, dysmorphic features, short hands with clinodactyly of fifth finger, joint contractures. Nuclear cataract in OD and rotating nystagmus in OO, bicuspid aortic valve with moderate failure, psychotic behavior and neurological tics. |
Pazooki et al. 2007 (mother and child) | 46,XXdup(6)(q21q22.1)mat | FISH with BAC probes | dup(6)(q21q22.1) according to minimal breakpoints using BAC probes (RP11-428 F8 and RP1-64I15) | chr6: 111498415- 116048892 | Child: DD, stridor, nutritional problems, obesity, intention tremor, dysmorphic features (anteverted nares, depressed nasal bridge, hypertelorism, short fingers). |
Mother: cognitive difficulties, obesity, intermittent tremor. | |||||
ISCA nssv 1495729 | arr[hg19] 6q22.1q22.32(117,928,310-127,021,125)x3dn | Oligo aCGH | dup(6) (q22.1q22.32) | chr6: 117928310-127021125 | DD and/or other significant developmental or morphological phenotypes |
Current family 1 | arr[hg19] 6q22.1q23.2(116,411,005-132,541,408)x3mat | Illumina Human CytoSNP-12 | dup(6)(q22.1q23.2) | chr6: 116411005-132541408 | -normal phenotype in 6q duplication carriers, -variable phenotype (from learning problem to developmental delay and intellectual disability) in carriers of both 6q duplication and 16p11.2 microduplication. |
Current family 2 | arr[hg19] 6q21q22.33(113,464,340-128,801,386)x3mat | Affymetrix SNP CytoScan HD | dup(6)(q21q22.33) | chr6: 113464340-128801386 | Fetus: dysmorphic features (anteverted nares, short nose, long eyelashes), esophageal atresia, pulmonary lobulation anomaly, meckel diverticulum, bilateral hydronephrosis, pancreatic ectopia, neuronal heterotopia of the cerebellum (dentate nucleus). Termination of pregnancy at 33WG. |
arr[hg19] 6q21q22.33(113,465,762-128,774,807)x3dn | Oligo aCGH Agilent 60 K | dup(6)(q21q22.33) | chr6: 113465762-128774807 | Mother: learning difficulties, dyslexia, scoliosis. |