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Table 1 Patients with 1p interstitial microdeletions

From: Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability

Patient Karyotype Source Phenotype Methods and coordinates
1 del(1)(p21p32) [1]a1979 Severe psychomotor retardation, craniofacial and skeletal anomalies, short stature, overweight. Karyotyping
2 del(1)(p22.1p31.2) [2]a1987 Psychomotor retardation, craniofacial and limb anomalies. Karyotyping
3 del(1)(p22.1p31.2) [3]a1991 Pt 1 Developmental delay, intellectual disability, craniofacial anomalies. Karyotyping
4 del(1)(p22.3p31.3) [3]a1991 Pt 2 Developmental delay, seizures craniofacial and limb anomalies. Karyotyping
5 del(1)(p32.3p34.1) [4]a1991 Mental and motor developmental delay, craniofacial and limb anomalies, hypotonia. Karyotyping
6 del(1)(p36.1p36.2) [5]a1993 Developmental delay, craniofacial anomalies, neuroblastoma. Karyotyping
7 del(1)(p32.1p32.3) [6]a1995 Developmental delay, craniofacial and limb anomalies. Karyotyping
8 del(1)(p21p22.3) [7]a1997 Craniofacial and limb anomalies, congenital heart disease, rib abnormalities. Karyotyping
9 del(1)(p34.1p34.3) [8]a1999 Pt 1 Severe learning disability, attention deficit disorder (ADD), craniofacial anomalies. Karyotyping and FISH with probes specific for chromosome 1 (COATA-SOMETM1, p5205-DG.5)
10 del(1)(p34.1p34.3) [8]a1999 Pt 2 Attention deficit hyperactivity disorder (ADHD), craniofacial anomalies, disturbed behaviors. Karyotyping and FISH with probes specific for chromosome 1 (COATA SOMETM1, p5205-DG.5)
11 del(1)(p32.1p32.3) [9]a 2002 Pt 1 Global developmental delay, craniofacial anomalies, absence of corpus callosum, type I Chiari malformation, tethered cord. Karyotyping and FISH with probes specific for whole chromosome painting
12 del(1)(p32.1p32.3) [9]a2002 Pt 2 Intraventricular hemorrhage, seizures, thin corpus callosum, limb anomalies Karyotyping and FISH with probes specific for whole chromosome painting
13 del(1)(p32.1p32.3) [10]a2003 Delayed psychomotor development, craniofacial anomalies Karyotyping and FISH using whole chromosome 1 painting probe (wcp1)
14 del(1)(p36) [11]a2004 Craniofacial anomalies, moderate intellectual disability, seizures. FISH with TelVysion 1p (Vysis), P5124 (Oncor), a YAC 273d11 (CEPH)
15 del(1)(p31.3p32.2) [12] 2010 Craniofacial anomalies, hypoplasia of corpus callosum, ventriculomegaly, hypotonia 105K Oligoarray CGH & BAC array CGH, 4.93 Mb deletion, 1p32.2p31.3 (chr1:58,193,565-63,125,273)X1 dn, hg19
16 del(1)(p36.3) [13]a 2010 Prader-Willi like features. MLPA, FISH with BAC probes, real-time q-PCR
17 del(1)(p31.1p32.2) [14] 2014 Craniofacial anomalies, partially hypoplastic corpus callosum, mild ventriculomegaly, intraparenchymal hemorrhages, cerebral palsy. SNP- microarray (SNP-CMA), 22.9 Mb deletion (chr1:55,113,975-77,992,492)X1, hg19
18 del(1)(p36.3) [16] 2008 Developmental delay, facial dysmorphisms, neuroblastoma MLPA, 244 K oligo microarray, a deletion of 1.59 Mb at 1p36.3 and a duplication of 3.26 Mb at 1p36.3 (1,741,058-5,004,693)X3, hg18, FISH with Vysis 1p36 and BACs
19b del(1)(p31.3p32.1) [17] 2007 Abnormal corpus callosum, Ventriculomegaly, developmental tethered spinal cord, Chiari I malformation array Comparative genomic hybridization (aCGH)
20 del(1)(p32.1p32.3) [22] 2015 Microcephaly, urogenital anomalies, hearing loss, choanal atresia. SNP microarray, 6.4 Mb deletion (chr1:54,668,618-61,113,264)X1, hg19, FISH with BACs
DCP274057 partial C-terminal duplication of NFIA DECIPHER 90 kb duplication at 1p31.3, global developmental delay  
DCP260253 intragenic deletion of NFIA DECIPHER 117 kb deletion at 1p31.3, phenotype not available  
DCP285169 intragenic duplication of NFIA DECIPHER 419 kb duplication paternally inherited at 1p31.3, additional 2.07 Mb maternal deletion at 15q13, delayed fine motor development, expressive language delay, impaired social interactions, receptive language delay  
DCP288170 intragenic NFIA deletion DECIPHER 229 kb deletion at 1p31.3, intellectual disability, macrocephaly  
DCP300407 del(1)p32.1 DECIPHER 281 kb deletion at 1p32.1, cognitive impairment  
DCP264827 del(1)p31.3 DECIPHER 5.43 Mb deletion at 1p31.3, abnormally folded helix, ADHD, constipation, flat forehead, global developmental delay, hypothyroidism, malar flattening  
DCP276512 del(1)p31.3p32.1 DECIPHER 8.83 Mb deletion at 1p31.3-1p32.1, delayed speech and language  
  1. a Microdeletions without genomic coordinates reported in the pre-microarray era. Pt denotes patient
  2. bPt 19 has additionally a chromosomal translocation 46,XY,t(1;3)(p22;q21)dn