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A systematic clinical review of prenatally diagnosed tetrasomy 9p Cover

A systematic clinical review of prenatally diagnosed tetrasomy 9p

Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 1 (June 2019)
By: ,  ,   and    
Open Access
|Aug 2019
Figures & tables

Figures & Tables

Table 1

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][–][–][–][+][–][–][–][–]

[i] IUGR: intrauterine growth retardation; CNS: central nervous system; [+]: present; [–]: not present.

Table 2

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%

[i] CVS: chorionic villus sampling; AC: amniocentesis; FISH: fluoresent in situ hybridization.

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.

Table 3

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])–––

[i] CNS: central nervous system; IUGR: intrauterine growth retardation; NT: nuchal translucency.

Table 4

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]
DOI: https://doi.org/10.2478/bjmg-2019-0012 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
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Language: English
Page range: 11 - 20
Published on: Aug 28, 2019
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
Array comparative genomic hybridization (aCGH),
Chromosome anomalies,
Molecular karyotyping,
Prenatal genetic diagnostics,
Tetrasomy 9p
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2019 M Vinkšel, M Volk, B Peterlin, L Lovrecic, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 22 (2019): Issue 1 (June 2019)
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