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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
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Molecular Cytogenetics

ISSN: 1755-8166