Table 2 Phenotypic and genotypic characteristics of present case and previously reported cases with terminal 10p deletions

Our Patient

Present case

del(10)(p15.3-p13)

Chr10: 105,001–12,815,001

12.6 MB

Male

3 days

1 month

HDR

Specific facial feature

Mental retardation,delayed motor function, frontal lobe cyst, cryptorchidism

Patient 1

Nina Marić et al. [4]

del(10)(p13)

NR

NR

Female

Neonatal period

Neonatal period

HDR

Specific facial feature

NR

Patient 2

Vidavalur R et al. [22]

del(10)(p15.3p14)

NR

NR

Reference Male

Neonatal period

Neonatal period

HD

Cardiac anomalies

NR

Patient 3

Saet Byeol Kim et al. [23]

del(10)(p15.3-p13)

Chr10: 100,047–16,314,195

16 Mb

Female

Neonatal period

Neonatal period

HDR

Cardiac anomalies

Thymus Hypoplasia/aplasia

Brain anomalies, hypotonia

Patient 4

Birute Tumiene et al. [18]

del(10)(p15.3)

10p15.3 del (102,539–4,440,292)

4.4 Mb

Male

Neonatal period

7 months

NR

Specific facial feature

Muscular hypotonia, psychomotor retardation, laryngotracheomalacia

Patient 5

Bruno F. Gamba et al. [5]

del(10)(p15.3p14)

Chr10: 2,834,518–8,485,795

NR

Male

Neonatal period

3 months

NR

Bilateral cleft lip/palate

Delayed psychomotor development

Patient 6

Daniela Melis et al. [3]

del(10)(p14)

Chr10: 7,914,774–12,105,010

4.19025 Mb

Male

NR

4 years

H

NR

Psychomotor retardation, palpebral ptosis, epicanthic folds, anteverted nares, cryptorchidism, hand/foot abnormalities

Patient 7

Cheryl DeScipio et al^.[14]

del(10)(p15.3)

chr10:214,559- 2,464,948

2,250,389 bp

Male

NR

10 years

R

NR

Mild intellectual disability, developmental articulation disorder, language disorder, hypospadia

Patient 8

Cheryl DeScipio et al. [14]

del(10)(p15.3)

chr10: 62,797- 1,230,967

2,250,389 bp

Male

NR

5 years

NR

NR

Craniofacial dysmorphism, partial complex seizures, diaphragmatic hernia, and developmental, motor and language delay

Patient 9

Cheryl DeScipio et al. [14]

del(10)(p15.3)

chr10:115,544–1,748,581

1,633,037 bp

Male

NR

8 years

NR

NR

craniofacial dysmorphism, developmental delay, autistic behavior, stereotypy and developmental and speech delay

Patient 10

Cheryl DeScipio et al. [14]

del(10)(p15.3)

chr10: 106,829- 3,812,917

3,706,088 bp

Male

NR

38 years

NR

NR

craniofacial dysmorphism, growth delay, moderate intellectual disability, global psychomotor delay

Patient 11

Elisa Benetti et al. [6]

del(10)(p15-p12)

NR

NR

Female

8 month

15 months

DR

NR

Epilepticus, growth and mental retardation

Patient 12

Annapia Verri et al. [7]

del(10)(p15-p14)

NR

NR

Male

2 months

33 years

HR

Specific facial feature

Developmental delay, Autism

Patient 13

Peter Lichtner et al. [2]

del(10)(p13)

WI-2389

NR

Female

Neonatal period

7 years

HDR

Specific facial feature

Developmental delay

Patient 14

Peter Lichtner et al. [2]

del(10)(p13)

D10S1720

NR

Female

Neonatal period

12 years

HDR

Specific facial feature

Developmental delay

Patient 15

Majed Dasouki et al. [8]

del(10)(p13)

D10S547

NR

Male

Neonatal period

15 years

HD

Specific facial feature, T cell abnormality

Epilepticus, growth and mental retardation

Patient 16

Moshe Shapira et al. [9]

del(10)(p13)

NR

NR

Male

Neonatal period

4 years

DR

Specific facial feature

Developmental delay, psychomotor retardation

Patient 17

R.Berger et al. [10]

del(10)(p13)

NR

NR

Male

Neonatal period

Neonatal period

H

Cardiac anomalies, Specific facial feature

Small penis, left undescended testis, elub hands and club feet. dehiscent abdominal muscular wall

Patient 18

M. H. Shokeir et al. [11]

del(10)(p13)

NR

NR

Male

Neonatal period

NR

NR

Cardiac anomalies, Specific facial feature

NR