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Recombinant chromosome 14 due to maternal pericentric inversion

100%

Sliuzas V., Utkus A., Kucinskas V.

Journal of Applied Genetics

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2008

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tom 49

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nr 2

205-207

Chromosome 14 is often involved in various chromosome rearrangements, most of them balanced. Human chromosome 14 is acrocentric, so its pericentric inversions are extremely rare (only few cases have been described in the literature). Here we report on a boy with congenital malformations and recombinant chromosome 14 inherited from his mother carrying a pericentric inversion. The proband’s G-banded chromosome analysis revealed derivative chromosome 14. Comparative genomic hybridization analysis identified duplication of the terminal part of chromosome 14q ish cgh dup(14)(q32.lqter). This abnormality has been confirmed by custom ВАС FISH analysis. His mother’s karyotype was 46,XX,inv(14)(p11.2q32.1).

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Bilateral pectoral musculature malformations with concomitant vascular anomaly

75%

Paraskevas G. K., Raikos A.

Folia Morphologica

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2010

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tom 69

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nr 3

We report on a unique combination of multiple variations concerning the pectoral muscles and the left external jugular vein. Specifically, a bilateral hypoplasia of the medial clavicular portion of the pectoralis major muscle was noticed along with the coexistence of total right pectoralis minor aplasia, substituted by loose connective and fatty tissue. Simultaneously, a supernumerary anterior-placed external jugular vein was found, which, after its supraclavicular course, pierced the interval between the left clavicular and the sternocostal head, and drained into the left jugular junction. The combination of the above anomalies constitutes an atypical pattern of Poland syndrome. We discuss the related embryological development and the relative literature. Attention was paid to the clinical importance for plastic surgeons, general surgeons, and radiologists, facilitating them with accurate interpretation of anterior thoracic wall findings. (Folia Morphol 2010; 69, 3: 187–191)

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Incidence and clinical manifestations of urinary system congenital malformations in children from district of Lublin

75%

Borzecka H., Zinkiewicz Z., Majewski M., Sikora P., Bienias B., Piechuta L., Ksiazek E., Zajaczkowska M.

Polish Journal of Environmental Studies

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2004

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tom 13

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nr Suppl.2, Part 1

The purpose of the study was to estimate the incidence of urinary system congenital malformations and to analyze their clinical manifestations. The study comprised children hospitalized in the Department of Pediatric Nephrology, University Children's Hospital, Lublin, between 2000 and 2003. Urinary system congenital malformations were diagnosed in 16,2% of studied children. The most common urinary system congenital malformations was vesico-ureteral reflux (75,2%). The most common clinical manifestation was urinary tract infections, urinary incontinence and/or nocturnal enuresis, and abdominal pain. In 2% of patients, urinary system congenital anomalies were detected accidentally.

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The human claustrum in some congenital malformations of the brain

75%

Morys J., Narkiewicz O., Wisniewski H. M.

Folia Morphologica

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1990

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tom 49

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nr 3-4

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Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome

75%

Goc B., Walencka Z., Wloch A., Wojciechowska E., Wiecek-Wlodarska D., Krzystolik-Ladzinska J., Bober K., Swietlinski J.

Journal of Applied Genetics

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2006

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tom 47

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nr 2

The study aimed to analyse the clinical courses of aggressively treated neonates with cytogenetically confirmed trisomy 18, with special attention focused on the efficiency of prenatal diagnostics, associated malformations, therapeutic dilemmas and outcomes. We investigated retrospectively the data concerning 20 neonates with trisomy 18, admitted to the Neonatal Intensive Care Unit (NICU) in Katowice between January 2000 and February 2005. Their birth weights ranged from 650 g to 2400 g, mean 1812 g; gestational age ranged from 27 to 42 weeks, median 38 weeks. Intrauterine growth retardation was noticed in 90% of neonates. Trisomy 18 was suspected prenatally in 40% of cases. Most (80%) of newborns were delivered by caesarean section (92% of neonates with prenatally unrecognized chromosomal defects, 62% of neonates with trisomy 18 suspicion) and 70% of infants needed respiratory support immediately after birth. Cardiac defects were present in 95%, central nervous system malformations in 65%, severe anomalies of digestive system or abdominal wall in 25% of patients. Nine surgical operations were performed during hospitalization (4 were palliative cardiac surgeries). Six patients (30%) survived the neonatal period and were discharged from the NICU. The median survival of the neonates who died was 20 days. In 4 cases cardiac problems implicated their death; in others, deaths were attributed to multiorgan failure, prematurity and/or infection. Further improvement of efficiency of prenatal ultrasound screening for diagnosis of trisomy 18 in the fetus is necessary. A lack of prenatal diagnosis of trisomy 18 in the fetus results in a high rate of unnecessary caesarean sections in these pregnancies. Despite the aggressive treatment most neonates with trisomy 18 died during the neonatal period. The majority of deaths were attributed to cardiorespiratory and multiorgan failure. Concerning the poor prognosis, prompt karyotyping (using FISH) of clinically suspected trisomy 18 is very important, because many invasive procedures and surgeries may then be avoided.

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