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pISSN: 0126-074X | eISSN: 2338-6223 CASE REPORT MKB. 51(3):185–8

Patau Syndrome with Genotype 47,XY, + 13,t(13:18)https://doi.org/10.15395/mkb.v51n3.1389

Vanda Elfira,1,2 Fiva Aprilia Kadi,2 Bremmy Laksono,3 Sjarif Hidajat Effendi2 1Kebayoran Lama General Hospital South Jakarta, Indonesia, 2Department of Child Health Faculty of Medicine Universitas Padjadjaran/Dr. Hasan Sadikin General Hospital Bandung, Indonesia, 3Department of Biochemistry and Molecular Biology, Faculty of Medicine Universitas Padjadjaran, Bandung, Indonesia

Abstract

Trisomy 13 (Patau syndrome I or II, or at (mosaicism), and partial due to translocation. Patau syndrome is one of the most common chromosomal )anomalies is cytogenetically with an classifiedestimated as incidence a 47,XY,+13 of about or 47,XX,+13, 1/10,000 due births to characterized byat the presence of cleft lip and/or palate, post axial , low set ears, rocker-bottom feet, cryptorchidism, and congenital heart disease. This was a case report of a newborn baby in Dr. Hasan Sadikin General Hospital Bandung

inKey January words: 2016 Patau with syndrome, translocation Trisomy of 13, translocation 13 segment to or 47,XY,+13,t(13:18).

Sindrom Patau dengan Genotype 47,XY,+13,t(13:18)

Abstrak

kegagalan pemisahan pada meiosis I atau II, atau pada mitosis (mosaicism) dan trisomi parsial yang disebabkan Trisomioleh translokasi. 13 (sindrom Sindrom Patau) Patau secara merupakan sitogenetik salah diklasifikasikansatu anomali kromosom 47,XY,+13 yang atau paling 47,XX,+13, sering dengan disebabkan insidensi oleh sekitar 1/10.000 kelahiran, dengan karakteristik fenotipe seperti celah bibir dan atau celah langit-langit, postaxial polydactyly, low set ears, rocker bottom feet, kriptokismus, serta kelainan jantung kongenital. Dilaporkan kasus sindrom Patau pada bayi baru lahir di Rumah Sakit Dr. Hasan Sadikin Bandung pada Januari 2016 yang

Katamenunjukkan kunci: Sindrom segmen patau, dari kromosom Trisomi 13, 13 translokasi translokasi ke kromosom 18 atau 47,XY,+13,t(13:18).

Corresponding Author: , Kebayoran Lama General Hospital South Jakarta, Jalan Jatayu, Kebayoran Lama Selatan,

Vanda Elfira South Jakarta, Indonesia, Email: [email protected]

Majalah Kedokteran Bandung, Volume 51 No. 3, September 2019 185 Elfira, et al:

Patau Syndrome with Genotype 47,XY, + 13,t(13:18) Introduction physical abnormality in many parts of the body.5 This syndrome is also the third most Trisomy 13 or Patau syndrome is a multiple common autosomal after trisomy congenital anomalies syndrome characterized 21 () and trisomy 18 (Edward syndrome). This syndrome has been found microphtalmia, and postaxial polydactyly 2,6,7 byon extremities. three cardinal The signs:global lipprevalence or cleft of palate, this survival rate of baby with Patau syndrome has disease is around 1/10,000 births and its since more than 40 years ago. Until now, the frequency increases to 100 times in spontaneous .1,2 This syndrome is often considered as not changed much, which is about 30–60% in a “lethal disorder” because of its poor outcome. the1 year first is week,not common. 20–40%6 This in thesyndrome first month, is seen and in with Patau syndrome has a worse 3–10%1 out of in 10,000-20,000 the first year of births. life. Survival5,8,9 Older rate age after has prognosis. been associated with the risk of giving birth baby with Patau3,4 syndrome experience spontaneous with Patau syndrome.5 This condition is quite abortion or intrauterineAbout 67% fetal of fetusdeath diagnosedwhile the life threatening, thus it correlates with the high rate of spontaneous abortion, intrauterin fetal 3After death, and short life expectancy.9,10 Hence, early theother prenatal 50% died diagnosis, during a the lot offirst women week chooseand only to detection of chromosome abnormalities is very terminateabout 9% their babies pregnancy survive while their firstsome year. choose to important to diagnose this trisomy during the continue. This is a case report reporting a case prenatal period.10 of Trisomy4 13 with translocation to chromosome The majority of Trisomy 13 case is not hereditary. On the contrary, it occurs due to random events during the formation of ovum and 18 or 47,XY,+13,t(13:18). sperm in healthy parents. The nondisjunction Case causes those cells to have abnormal number of chromosome, such as the presence of extra 13 A 30-years-old G2P1A0 woman in 39 weeks in the egg/sperm. The atypical of gestation gave birth to a son by caesarian reproductive cells will lead to three copies section. The new born infant weighed 2,550 gr of in every cell of the fetus (while normally only two copies are present). This genetic material might disturb the normal withto have APGAR distinctive scores ofclinical 8 and features9 during thatthe first include and development and produces the clinical features fifth minutes of life. The newborn was observed of Trisomy 13.5 The parents of Patau syndrome nose, short and wide neck, postaxial polydactyly, patient also need to be checked for chromosomal dismorphicrocker bottom face, feet, hipertelorism, cryptochidism, low sethypospadia ears, flat aberration, because they might be a carrier of penile type, and a small patent ductus arteriosus. Robertsonian translocation which can cause The result of the post-natal ultrasonography chromosomal or addition and result in presented that the baby also had atrial septal syndrome of multiple malformations, including defects but no lip or cleft palate was seens. trisomy 13 (Patau syndrome). An unaffected No history of congenital abnormalities was person with a balanced translocation involving chromosome 13 (Robertsonian or other) has After the peripheral blood examination was an increased chance to pass extra material identifiedperformed fromusing eitherthe conventional side of parents’ chromosome family. from chromosome 13 to offsprings with each analysis and Fluorescence in situ hybridization pregnancy. However, the exact recurrence risk (FISH) method, it trisomy 13 with translocation may depend on which parent is a carrier, the in chromosome 18 was discovered. The genotype pattern of the chromosome was translocation, chromosome(s) involved. Recurrence is more showing that this was a hereditary condition. typecommon of translocation when the translocation present, and carrier the specific is the Recurrency might happen in the future. mother. Trisomy 13 can also happen when the a part of chromosome 13 translocates to Discussion other chromosome during the formation of reproductive cells (ovum and sperm) or during Trisomy 13, also known as Patau syndrome, the early development of fetus. The fetus will is a abnormal chromosome condition which have two copies of normal chromosome 13 and is linked with severe intelectual disability and one extra copy of chromosome 13 which will

186 Majalah Kedokteran Bandung, Volume 51 No. 3, September 2019 Elfira, et al:

Patau Syndrome with Genotype 47,XY, + 13,t(13:18) bind with other chromosomes.5 citogenic test was performed using fluoresncence A fraction of patients with trisomy 13 will in situ hybridizaion (FISH) and chromosome have extra copy of chromosome 13 in some parts analysis while the genetic molecular test was of the body cells. This condition is known as done through the detection of homozigosity and Trisomy 13. The severity of the condition sequence analysis of the whole coding region depends on the type and number of cells and deletion/duplication analysis.13 In this which has the extra chromosome. The clinical patient, FISH test and conventional chromosome manifestation of mosaic trisomy 13 is often analysis was performed using peripheral blood lighter.5 sample to detect any translocation. The test Patau syndrome is characterized with three result presented a translocation of chromosome14 and postaxial polydactyly.1,2,11 Other than that, Patau syndrome can be diagnosed during cardinalother signs signs: that lip canor cleft be foundpalate, ismicrophtalmia, scalp defect, 13prenatal to chromosome period using 18 variousor 47,XY,+13,t(13:18). methods including holoprocenphaly, congenital heart disease, ear using fetal genetic material with disorder, nose disorder, and severe intelectual or chorionic villus sampling which are considered 12 Commonly, the most invasive.6 Other non-invasive methods include severe manifestation of Patau syndrome is ultrasonography and maternal serum marker holoprocencephalydevelopment deficiency. which can affect the brain examination, although its sensivity and specivity (one cerebri hemisphere, cerebri ventricle, are limited. Various alternative methods corpus calosum agenesis), ocular structure are developed for early detection, including, (microphtalmia.anopthalmia or ) and among others, by using maternal plasma DNA frontal bud (proboscis, hipertelorism, velo- sequencing.15 During the last 30 years, early palatine median cleft).11 detection of Patau syndrome is performed by Several congenital heart diseases which is amniocentesis and ultrasonography examination often seen in these trisomy are ventricular septal in the second and third trimesters of pregnancy. defect, patent ductus arteriosus, and atrial septal After prenatal diagnosis, parents are given the defect. The abnormalities of the eye include freedom to choose pregnancy termination micropthalmia, iris, retina dysplasia, through induced abortion or to continue the and helics auricle abnormality. Some skin pregnancy eventhough the fetus has been disorders might also occur, including capillary diagnosed with severe fetal abnormalities.10 hemangioma on the forehead; axial triadii on During the process of decision making by the the distal palmar; simian crease; hipoconvex parents, it is very important to do counseling about the prognosis and the risk of intrauterin overlapping and camtodactyly; and hands fetal death, death of the newborn/infant, or the andpolydactyly. narrow nails’Some fingers bone flexionabnormalities with or withoutsuch as longterm survival rate.6,10 The management for thin posterior ribs and pelvic hipoplasia could fetus in the third trimester, if the mother decided also happen. In males, cryptocydism/abnormal to continue her pregnancy, is quite complicated scrotum could be observed while bicornuat which is due to the high risk for death in newborn uterus is seen in females. Other malformations or infant with Patau syndrome. could happen and are followed by severe Other than that, the most 7 important issue psychomotoric disorder. regarding the management and counseling of This patient only shows7 one cardinal sign, baby with Patau syndrome is the poor prognosis. which is postaxial polydactyly, while the other The patient will most likely experience severe two signs are not found. The ocular abnormality mental retardation, frequent seizures, and experienced by the patient is hipertelorism; heart failure to thrive. Because of that, operative and disorders including patent ductus arteriosus and orthopedic corrective procedure should be done atrial septal defect; ear disorder in the form of as early as possible to see the outcome in the nose; bone disorder including rocker bottom babies born with Patau syndrome who receive lowfeet setand ears;cryptocysmus; nose disorder genital in theabnormality form of flat in firstactive few intensive months. care A study in NICU in andJapan able showed to survive that the form of hipospadia penile type; and other until 60 days old have a good chance to have a disorders including dismorphic face with short long-term life. Another study in Austria showed and wide neck. that the mean7 survival time for babies with The diagnosis of Patau syndrome was made Trisomy 13 is between 6 hour to a maximum of based on clinical manifestations observations as 10 well as citogenic and molecular genetic tests. The Prenatal screening for fetal chromosome 87 hours.

Majalah Kedokteran Bandung, Volume 51 No. 3, September 2019 187 Elfira, et al:

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