Carriage of diseases in the mother

An interesting case was revealed in a family from Moscow: in young healthy parents, the first pregnancy ended in a spontaneous sudden interruption, so the spouses connected the mother's active work during pregnancy. The parents were very worried - they really wanted to have children. The quickly onset of the second pregnancy proceeded with the threat of termination, my mother was on the safe side, she took great care of herself. The doctors noticed that the fetus was smaller than usual. Great efforts by the family and medical professionals allowed to preserve the pregnancy. The birth weight was small, the child had nuances of appearance, the parents attributed them to their own characteristics (wide-set eyes, small eye slits, snub nose, protruding ears, there were practically no earlobes). Significant violations in the baby's health were not accepted. The problems began at the age of 1 year, when the parents realized that the child was lagging behind in development: he was slowly acquiring motor and speech skills. At 1 year and 6 months, the child developed very strange seizures lasting up to 10 minutes: every day he suddenly fell into a state of lethargy, he began to yawn obsessively, contact with him during seizures was difficult. Consultations with specialists did not help to clarify the diagnosis. After 2 months, during attacks, the right hand periodically begins to twitch rhythmically. A diagnosis of epilepsy was made, treatment was prescribed, but the seizures did not go away, the seizures intensified, the delay in speech and motor development progressed, the child began to lose the acquired skills. Conducted magnetic resonance imaging of the brain. A genetic study of the karyotype was recommended for all family members. It found no anomalies in either the child or the parents. Parents - a more informative study of the child - full ectomy sequencing, which was very expensive for the family's budget. However, also no genetic breakdowns that could have been detected by the disease have been identified. The family was unable to pay any further for genetic research and was used to fund help. A study of the complete genome was carried out in all family members, which revealed an extraordinary, very significant breakdown of the X chromosome in the mother and in the child: a large section of the chromosome was lost, and the ends of this gap were doubled. The mother (female) has two X chromosomes, the breakdown of one of them does not lead to the manifestation of diseases. But the child (male) has only one X chromosome, so the boy has the disease. The family understood the cause of the disease and decided on pregnancy, now having the opportunity to find out at an early stage of pregnancy whether the fetus inherited the disease. Fortunately, the third pregnancy came with a female fetus (girls have two X chromosomes), the baby will be clinically healthy in any case. The probability of asymptomatic carriage in a girl is 50%.