Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation

In Yang Park; Jong Chul Shin; Ji Young Kwon; Bo Kyung Koo; Myungshin Kim; Jihyang Lim; Yonggoo Kim; Kyungja Han

doi:10.3343/kjlm.2009.29.4.366

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Park, Shin, Kwon, Koo, Kim, Lim, Kim, and Han: Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation

Case Report

Korean J Leg Med 2009;29(4):366-370.

Published online: 14 January 2009

DOI: https://doi.org/10.3343/kjlm.2009.29.4.366

Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation

In Yang Park, M.D.¹, Jong Chul Shin, M.D.¹, Ji Young Kwon, M.D.¹, Bo Kyung Koo, M.D.^2,³, Myungshin Kim, M.D.^2,⁴, Jihyang Lim, M.D.^2,⁴, Yonggoo Kim, M.D.^2,⁴, Kyungja Han, M.D.^2,⁴

¹Department of Obstetrics and Gynecology, The Catholic University of Korea, Seoul, Korea

²Department of Catholic Genetic Laboratory Center, Seoul, Korea

³Department of Laboratory Medicine, Seoul St. Mary's Hospital, Seoul, Korea

⁴Department of Laboratory Medicine, The Catholic University of Korea, Seoul, Korea

Corresponding author: Myungshin Kim, M.D. Department of Laboratory Medicine, Seoul St. Mary's Hospital, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Korea Tel: +82-2-2258-1645, Fax: +82-2-2258-1719 E-mail: microkim@catholic.ac.kr

^∗ The first authorship was distributed equally between In Yang Park and Jong Chul Shin.

Revised 9 February 20091 July 2009 Accepted 14 July 2009

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++)[16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography.

Keywords: Pallister-Killian syndrome, multicolor banding technique, fluorescence in situ hybridization, pulmonary stenosis, right ventricular dilatation

REFERENCES

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Fig. 1.

Conventional cytogenetic analysis on GTG-banded chromosomes from amniotic fluid of the fetus showed 47,XX,+mar in 16 cells and 46,XX in 4 cells.

Fig. 2.

Fluorescence in situ hybridization (FISH) analysis using a TEL/AML1 (LSI TEL/AML1 Dual Color, Extra Signal Fusion Translocation Probe, Abbot Molecular/Vysis, Des Plaines, IL, USA) probe showed two green (TEL) signals located symmetrically on both arms of the marker chromosome (arrows).

Fig. 3.

The chromosome 12-specific mBAND probe kit, XCyte 12 (MetaSystems, Altlussheim, Germany), was hybridized to metaphase cells. Each fluorochrome was detected by adequate filter and the signals were analyzed by Isis/mFISH imaging software (MetaSystems). This analysis refined chromosome regions involved in isochromosome 12. The multiple band pattern confirmed that i(12) contained all regions of 12p.

Table 1.

Prenatally diagnosed Pallister-Killian syndromes presenting with cardiac defects

Reference	Cardiac defects	Extracardiac abnormalities	G-wks	Degree of mosaicism	Molecular cytogenetic method
Gilgenkrantz et al. [4]	Ebstein's anomaly	Polyhydroamnios, rhizomelic micromelia, edema (neck, trunk), facial dysmorphia with macrocephaly∗, Club feet∗, sacral dimple∗	26	100% of amniocytes	-
Wilson et al. [17]	Tetralogy of Fallot	Polyhydroamnios, diaphragmatic hermia, micromelia, facial dysmorphia, pleural effusion, anal stenosis∗, rectovaginal fistula∗	26	16/18 amniocytes	FISH
Turleau et al. [18]	Right hypertrophy, abnormal tricuspid valve	Polyhydroamnios, micromelia, craniofacial abnormalities∗, clinodactyly∗, hypoplastic lung, sacrococcygeal pit∗	30	100% of amniocytes	-
Lalatta et al. [19]	Atrio-ventricular septal defect	Diaphragmatic hernia, macrocephaly, facial abnormalites∗, abscent testicles∗	19	0% of 20 clones of amniocytes	-
Langford et al. [3]	Hypoplastic left heart	Increased nuchal translucency, hydrops, diaphragmatic hernia∗, micromelia, postaxial polydactyly∗, talipes∗ camptodactyly,∗ imperforate anus∗	15	6% of Chorionic villi	ISH
Doray et al. [7]	Tetralogy of fallot	Dandy walker malformatrion, rhizomelic micromelia, diaphragmatic hernia, club hand, craniofacial dysmorphism∗, flexed toes∗, various deformity∗, adrenal hypertrophy∗	16	9/100 Cord blood Lymphocytes	-
Abad et al. [16]	Right ventricular hypertrophy, VSD, severe TR	Increased nuchal translucency, facial abnormalities∗	13	100% of amniocytes
Present case	Right ventricular dilatation, PS	Dolicocephaly, low set ear∗	23	16/20 of amniocytes	FISH, mBAND

^∗ Autopsy finding.

Abbreviations: G-wks, gestational week at cytogenetic diagnosis; VSD, ventricular septal defect; TR, tricuspid regurgitation; PS, pulmonary stenosis; ISH, in situ hybridization; mBAND, multicolor banding.

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