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Table 4 Summary of cases with only one subtelomere MLPA probe indicating abnormal copy number.

From: Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre

Case

MLPA resulta

FISH studiesb

Sequencing/qPCR

Inheritance studies

Clinical features

13

del 1pter

(P036B, proximal)

-

No sequence changes

-

Developmental delay, dysmorphism

14

del 1pter

(P036B, proximal)

-

No sequence changes

-

Severe developmental delay, dysmorphism

15

del 4qter

(P069, distal)

-

Three base changes next to ligation site

-

Severe developmental delay, microcephaly, finger contractures

16

del 4qter

(P069, distal)

-

No sequence changes

-

Developmental delay, optic nerve hypoplasia

17

del 4qter

(P069, distal)

-

No sequence changesc

-

Developmental delay, dysmorphism, arthrogryposis

18

del 4qter

(P069, distal)

-

No sequence changesc

-

-

19

dup 6qter

(P069, distal)

-

-

-

Cleft palate, micrognathia

20

dup 8qter

(P036B, proximal)

-

-

Inherited from unaffected parent

Short stature, cardiac lesion, epicanthic folds

21

del 9pter

(P069, distal)

del 9pter

-

To follow

Learning difficulties, microcephaly, heterochromatic irises, patches of hypopigmented hair, happy disposition

22

dup 9pter

(P069, distal)

Normal, distal

-

Present in affected sibling, further studies to follow

Developmental delay, mild dysmorphism, speech delay, prominent teeth

23

dup 9qter

(P069, distal)

Normal, distal

-

De novo, parents unaffected

Moderate learning difficulties, ventral-spetal defect, shaking, umbilical hernia

24

dup 13qter

(P069, distal)

Normal, distal

-

-

Cleft palate, unilateral micropthalmia, coloboma

25

dup 15qter

(P069, distal)

Normal, proximal

-

-

Congenital heart disease, cleft palate, short stature, ptosis

26

dup 22qter

(P069, proximal)

-

-

De novo, parents unaffected

Developmental delay, autoimmune liver disease

8

dup 22qter

(P036B, distal)

Normal, proximal

-

-

Developmental delay, microcephaly, speech difficulties, seizures

27

dup 22qter

(P036B, distal)

Normal, proximal

-

De novo, parents unaffected

Developmental delay, hypospadias

  1. a MLPA result, probeset and position of abnormal MLPA probe relative to normal MLPA probe.
  2. b Result of FISH test and position of FISH probe relative to abnormal MLPA probe. No result indicates that no informative FISH probe or sample was available.
  3. c Homozygous/hemizygous single base change detected 24 bp from ligation site.