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Table 2 Summary of patients with proximal 16 deletions.

From: Association of a de novo16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

Patient

Chromosomal Region

Methodology

Molecular deletion (minimal)

Hand/Foot malformation

Anal Malformations

Low Set/Dysmorphic Ears

Growth Retardation

Hypotonia

MR/DD

Present Case

16q11.2q12.1

oligonucleotide aCGH

Chr16: 45,018,886 -- 50,571,154

Low-set thumbs, partial 4,5 toe syndactyly

+

+

+

+

+

1A

16q11.1q12.1

550 band karyotype

ND

Proximally placed thumbs, short distal phalanges

-

+

-

-

+

1B (sister of 1A)

16q11.1q12.1

550 band karyotype

ND

Proximally placed thumbs, short distal phalanges

-

+

+

-

+

2

16q11.2q21

CGH/FISH

Chr16:49,728,524-62,004,665

(YAC 922f01-PAC LLNLP704M031126Q4)

Radial hypoplasia, preaxial polydactyly, malpositioned toes

+

+

-

NA

NA

3A

16q11.2q12.2

oligonucleotide aCGH

chr16:45,058,042-52,009,874

Malpositioned toes, syndactyly

-

+

-

+

+

3B

16q11.2q12.2

oligonucleotide aCGH

chr16:45,058,042-50,485,941

Malpositioned toes

Rectal prolapse

+

-

+

+

4

16q11.1q13

high resolution karyotype

ND

Malpositioned toes

-

+

+

+

+

5,6

16q12.1q12.2

650 band karyotype/somatic cell hybrids

chr16:49,028,856

(D16S308)

Malpositioned toes, long fingers

-

+

deafness

+

+

+

7

16q12.1q12.2

BAC aCGH/FISH

chr16:50,271,170-52,727,176

(BAC RP11-242n20-RP11-324d17)

Radial hypoplasia, syndactyly

-

NA

-

+

+

8

16q12.1q12.2

qPCR

Chr16:47,900,000-49,800,000 (approx.)

Long thumbs

+

+

deafness

-

NA

+

9A

16q12.1q13

850 band karyotype

ND

Malpositioned toes, syndactyly, small hands and feet

-

+

deafness

+

+

+

9B

twin of 9A

16q12.1q13

850 band karyotype

ND

Malpositioned toes, syndactyly, small hands and feet

+

+

+

+

+

  1. ND is not done, NA is not assessed, aCGH is array comparative genomic hybridization, BAC is bacterial artificial chromosome, FISH is fluorescence in situ hybridization, and qPCR is quantitative polymerase chain reaction.
  2. References for Case numbers: 1 Hoo et al. [30], 2 Knoblauch et al. [31], 3 Ballif et al. [16], 4 Krauss et al. [32], 5 Schuffenhauer et al [33], 6 Callen et al. [34] (this patient was described in two papers), 7 Matthaei et al. [35], 8 Borozdin et al. [18], 9 Elder et al. [36]