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A systematic clinical review of prenatally diagnosed tetrasomy 9p

M Vinkšel
M Vinkšel
, 
M Volk
M Volk
, 
B Peterlin
B Peterlin
 and 
L Lovrecic
L Lovrecic
   | Aug 28, 2019
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Article Category: Original Article
Published Online: Aug 28, 2019
Page range: 11 - 20
DOI: https://doi.org/10.2478/bjmg-2019-0012
Keywords
© 2019 Vinkšel Μ, Volk Μ, Peterlin Β, Lovrecic L, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Prenatal genetic analysis reported additional cases of tetrasomy 9p. (A) Fetal karyotype analysis revealed two normal chromosomes 9 and additional i(9p). (B) Fluorescent in situ hybridization using Vysis (Abbott Laboratories) probes: TelVyson 9p SG and TelVyson 9q SO and Vysis CEP 9 SAq. Isochromosome 9p is marked with an arrow. (C) Microarray analysis, revealing four copies of 9p.
Prenatal genetic analysis reported additional cases of tetrasomy 9p. (A) Fetal karyotype analysis revealed two normal chromosomes 9 and additional i(9p). (B) Fluorescent in situ hybridization using Vysis (Abbott Laboratories) probes: TelVyson 9p SG and TelVyson 9q SO and Vysis CEP 9 SAq. Isochromosome 9p is marked with an arrow. (C) Microarray analysis, revealing four copies of 9p.

Prentally detected abnormalities of 22 cases of tetrasomy 9p.

Refs.Facial DysmorphismCleft Lip/ PalateIUGRCNS AnomaliesCardiac AnomaliesGenitourinary Tract AnomaliesSkeletal/ Limb AnomaliesAmniotic Fluid Volume Anomalies
Our case[+][+][–][–][–][+][+][–]
[5][+][+][–][–][–][-][+][–]
[5][+][–][+][+][–][+][–][–]
[6][+][–][+][+][–][–][+][+]
[52][–][–][–][–][+][–][–][–]
[51][–][–][–][–][–][–][+][–]
[4][–][–][+][–][–][–][–][–]
[45][+][+][–][+][–][+][+][–]
[39][+][+][+][+][+][+][+][+]
[34][–][–][–][–][–][–][–][–]
[46][+][+][+][–][–][–][+][+]
[40][+][–][–][+][+][–][+][+]
[37][–][–][–][+][–][+][–][–]
[47][–][+][–][+][–][–][+][–]
[33][–][–][+][+][–][–][–][–]
[38][–][+][–][–][+][–][+][–]
[38][–][+][+][+][–][–][–][–]
[1][–][+][+][–][–][-][–][–]
[1][–][–][+][–][–][-][+][+]
[32][–][+][–][+][+][+][+][–]
[3][–][–][+][+][–][+][–][+]
[15][–][–][–][+][–][–][–][–]

Pregnancy outcome after the prenatal diagnosis of tetrasomy 9p.

Pregnancy OutcomeNumber of Cases
Termination of pregnancy

10 full (our case [1, 5, 7, 32, 37, 39, 40, 46]);

4 mosaic [4,5,34,52]

Intrauterine death1 mosaic (1)
Neonatal death3 full [3,38,45]
Survival past neonatal period1 mosaic [3]
Unknown2 full [47,51]; 1 mosaic [38]

Prenatally detected (ultrasound assessment), abnormalities in the case of full tetrasomy 9p (full) and mosaic tetrasomy 9p (mosaic), according to the pregnancy trimester.

ParameterFirst TrimesterSecond TrimesterThird TrimesterUnspecified Time
CNS anomalies–6 full [7,15,32,37,39,45]; 2 mosaic [5,33]2 full [3,40]2 full [38,47]
Cardiac anomalies–2 full [32,39]; 1 mosaic [52]1 full [40]1 mosaic [48]
IUGR1 full [1]2 full [7,39; 2 mosaic [5,33]5 full [3]; 1 mosaic [1]5 full [38,46]; 1 mosaic [4]
Skeletal/limb anomalies2 full [5,51]5 full (our case [7,32,39,45]1 full [40]; 2 mosaic[1]1 full [47]; 1 mosaic [38]
Genitourinary tract anomalies–5 full (our [case [32,37,39,45]; 1 mosiac [5]1 full [3]1 mosaic [38]
Facial dysmorphism1 full [5]4 full (our case [7,39,45])1 full [40]1 full [46]
Cleft lip/palate2 full [1,5]4 full (our case [7,49,45])–3 full [38,46,47]; 1 mosaic [38]
Amniotic fluid volume anomalies–2 full [7,39]2 full [3,40]; 1 mosaic [1]1 full [46]
Increased NT4 full (our case [5,39,45])–––

Detailed karyotype results in prenatally detected cases of tetrasomy 9p.

Refs.KaryotypeMolecular KaryotypeConfirmatory Studies
Our caseCVS: 47, +i(9p)(ql3) = 100.0% [Figure 1(a) and 1(b)]arr[hgl9] 9p24.3pl3.2(204,193-38,815,475)x4 [Figure 1(c)]muscle: 100.0%
[51]?CVS: +i(9p) = 100.0%–no
[1]CVS: 47,XY,+i(9p) = 100.0%; AC: 47,XY,+i(9p)–no
[4]CVS: 47,XY,+i(9p)(ql2) = 100.0%; AC: 47,XY,+i(9p)(ql2) = 100.0%–
[37]CVS: 47,XY,+i(9p)(ql2) = 100.0%; AC: 47,XY,+i(9p)(ql2) = 100.0%–no
arr[hgl9] 19p24.3qll(214,367-
[5]CVS: +i(9p) = 100.0%; AC: +i(9p) = 100.0%39,816,368)x4liver: 100.0%
[45]AC: 47,XY,+i(9p)= 100.0%–no
[39]AC: 47,XY,+i(9p)(ql3) = 100.0%–no
[46]AC: 47,XY,+i(9p)= 100.0%–no
blood: 95.0%;
[47]AC: 47,XX,+i(9p) = 100.0%–cord blood:
85.0%
[38]AC:47,+i(9p) = 96.3%–no
cord blood,
[38]AC:47,+i(9p)=100.0%–lung, placenta:
100.0%
[1]AC:47,XY,+i(9p) = 96.7%–no
[32]AC:47,+i(9p)=100.0%–no
[15]AC: 47,XY,+i(9p)= 100.0%–no
AC: 47,XX,+i(9p)(ql2) = 20.0%;skin, lung:
[34]Repeat AC: 47,XX,+i(9p)(ql2) = 16.7%0.0%; cord
blood: 48.0%
[5]AC:+i(9p) = 72.0%–fetal lung
[6]AC: 47,XX,+i(9pXql2) = 100.0%9p24.3-pl3.1 (38,55 Mb)no
AC: 47,XX,+i(9pXql2) = 21.4%; Repeat AC: 47,XX,+i(pXq21.11) = 16.7%;arr(hgl9) 9p24.3pl3.1 (0-40,450,202)x3.4;fetal bloo±
[4]FISH (on cultured amniocytes): 47,XX,+i(9p)(q21.11) = 47.1%9pl3.1q21.11(40.576.977-71.026.063)x332.5%
[52]AC: 47,XX,+i(9pXql2) = 15.8%; Cord blood: 47,XX,+i(9p) = 59.7%–skin: lung: 24.016.0%; %
[33]AC: 47,XX,+i(9p)(ql3) =50.0%; Cord blood: 47,XX,+i(9p)(ql3) = 25.0%–peripheral
blood: 75.3%
[3]Cordocentesis: 47,XX,+i(9p) = 100.0%–skin: 100.0%
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