ChromosOmics - Database





                                                  - CHROMOSOME  16 -                                                

Cases without
clinical findings
Cases with
clinical findings

most common clinical findings acc to Orphanet and this page
(variable clinical features)

 - DD = developmental delay (including intellectual disability)
- growth retardation
- microcephaly
- DYS = dysmorphic facial features
- also possible: dermatological features (= dispigmentation incl. café-au-lait spots), congenital cataract, hypotonia, congenital heart anomalies

- theoretically to be expected: 
+ 16p13 microdeletion syndrome in case of terminal deletion (OMIM 610543)
+ 16q24 microdeletion syndrome in case of terminal deletion (OMIM 148050 and Orphanet 261250)

Cases without or very mild clinical findings (O)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
inherited
 		karyotype test
methods
 		clinical symptoms
 		Reference
RC/O-
16-
p13.?3q24.?3/
1-1
 		male/
5y		 PBL dn

46,XY,r(16)(p13.?3q24.?3)

dynamic mosaicism:
46,XY,r(16)[56]/46,XY[44]

subtelomere 16qter present
16p not tested

GTG

FISH

Autism

otherwise normal 		{1 – RC16-6;
542}
RC/O-
16-
p13q24/
1-1
 		female/
34y		 PBL
fibros
 dn

46,XX,r(16)(p13q24)

dynamic mosaicism:
46,XX,r(16)[186]/45,XX,-16[8]/ 46,XX,dr(16)[4]/46,XX,der(16)[1]

GTG

FISH 		infertile, otherwise normal {1409; 1410 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
16-
p13.3q24.3/
1-1
 		female/
36y		 PBL dn

46,XX,r(16)(p13.3q24.3)

acc. to aCGH, ~0.39 and 0.37 Mb loss at 16pter and 16qter

GTG

aCGH		  growth retardation, infertile, otherwise normal {1 – RC16-8;
543}

Cases with clinical findings (W)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
inherited
 		karyotype
 		test
methods
 		general clinical symptoms
 		Reference
RC/W-
16-
p1?1q2?4/
1-1
 		male/
newborn 		PBL, fibros
?dn

46,XY,r(16)(p1?3q2?4)

dynamic mosaicism:
46,XY,r(16)[76]/45,XY,-16[17]/ 46,XY,var(16)[4] 		solid staining DD, micrognathia, growth retardation, DYS, seizures {1 – RC16-1;
544}
RC/W-
16-
p1?1q2?4/
1-2
 		female/
33y 		PBL
?dn

46,XX,r(16)(p1?3q2?4)

dynamic mosaicism:
46,XX,r(16)[79]/45,XX,-16[12]/ 47,XX,+7,(r16)[3] 		GTG DD, growth retardation, DYS {1 – RC16-2;
545; 546, 1 case; 589}
RC/W-
16-
p1?1q2?4/
1-3
 		female/
~0.2y 		PBL
dn

46,XX,r(16)(p1?3q2?4)

 GTG DD, growth retardation, DYS {1 – RC16-3;
547; 546, 1 case; 589}
RC/W-
16-
p1?1q2?4/
1-4
 		female/
1.5y 		PBL
dn

46,XX,r(16)(p1?3q2?4)

dynamic mosaicism:
 46,XX,r(16)[83]/45,XX,-16[17] 		GTG DD, growth retardation, DYS {1 – RC16-4;
548}
RC/W-
16-
p13.3q24.3/
1-1
 		female/
4.6y 		PBL
dn

46,XX,r(16)(p13.3q24.3)

dynamic mosaicism:
46,XX,r(16)[82]/45,XX,-16[9]/46,XX,var(16)[9]

telomeres present

GTG

FISH		 DD, growth retardation, DYS {1 – RC16-5;
549; 437,  case 2}
RC/W-
16-
p13.3q24.3/
1-2
 		female/
~0.3y 		PBL
dn

46,XX,r(16)(p13.3q24.3)

dynamic mosaicism:
46,XX,r(16)[97]/45,XX,-16[1]/ 46,XX,var(16)[2]

subtelomeres 16pter and 16qter absent
-> only minor loss <1Mb at both ends

GTG

FISH		 DD, microcephaly, growth retardation, DYS {1 – RC16-7;
550}
RC/W-
16-
p13.3q24.3/
1-3
 		male/
newborn 		PBL
?dn

46,XY,r(16)(p13.3q24.3)

acc. to aCGH, ~2.25 and 0.31 Mb loss at 16pter and 16qter

GTG

aCGH		 DD, microcephaly, growth retardation, DYS, seizures, dispigmentation {1 – RC16-9}